ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
3-129694664-C-T	ENST00000302649	p.Pro2Leu	Missense Variant	0	0	0	rs1326541838
3-129694665-C-T	ENST00000302649	p.Pro2Pro	Synonymous Variant	0	0	0	rs1404868248
3-129694666-G-A	ENST00000302649	p.Gly3Ser	Missense Variant	8	31376	0.000255	rs13306057
3-129694666-G-C	ENST00000302649	p.Gly3Arg	Missense Variant	1	31376	0.000032	rs13306057
3-129694666-G-T	ENST00000302649	p.Gly3Cys	Missense Variant	0	0	0	rs13306057
3-129694669-C-T	ENST00000302649	p.Pro4Ser	Missense Variant	0	0	0	rs1347706803
3-129694674-G-A	ENST00000302649	p.Trp5Ter	Stop Gained	0	0	0	rs1224514263
3-129694681-C-G	ENST00000302649	p.Leu8Val	Missense Variant	4335	31384	0.138128	rs5658
3-129694683-C-G	ENST00000302649	p.Leu8Leu	Synonymous Variant	0	0	0	rs762171742
3-129694684-G-A	ENST00000302649	p.Ala9Thr	Missense Variant	0	0	0	rs772388530
3-129694685-C-T	ENST00000302649	p.Ala9Val	Missense Variant	0	0	0	rs773461174
3-129694687-CTGGCTT-C	ENST00000302649	p.Ala11_Leu12del	Inframe Deletion	0	0	0	rs926117362
3-129694694-T-C	ENST00000302649	p.Leu12Ser	Missense Variant	0	0	0	rs1198584866
3-129694696-A-C	ENST00000302649	p.Thr13Pro	Missense Variant	0	0	0	rs372137370
3-129694696-A-G	ENST00000302649	p.Thr13Ala	Missense Variant	0	0	0	rs372137370
3-129694699-C-G	ENST00000302649	p.Leu14Val	Missense Variant	0	0	0	rs35792025
3-129694704-C-A	ENST00000302649	p.Asn15Lys	Missense Variant	0	0	0	rs753654116
3-129694705-C-T	ENST00000302649	p.Leu16Leu	Synonymous Variant	0	0	0	rs1362811807
3-129694707-G-A	ENST00000302649	p.Leu16Leu	Synonymous Variant	0	0	0	rs759514244
3-129694708-A-G	ENST00000302649	p.Thr17Ala	Missense Variant	0	0	0	rs1160005291

Showing 1 to 20 of 284 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TRH	P20396	Phosphorylation	166	S166-p	ADPKAQRsWEEEEEE	27.4	56653483

Showing 1 to 1 of 1 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
TRH	ENST00000302649	TCGA-G2-AA3B-01	urinary_tract	carcinoma	25113679	c.283G>C	p.E95Q	Substitution - Missense	NEUTRAL	.20502	Confirmed somatic variant	PMID: N/A	primary	95
TRH	ENST00000302649	TCGA-HE-7130-01	kidney	carcinoma	25113182	c.723G>T	p.E241D	Substitution - Missense	PATHOGENIC	.71331	Confirmed somatic variant	PMID: N/A	NS	241
TRH	ENST00000302649	T2252	large_intestine	carcinoma	25114106	c.304G>C	p.E102Q	Substitution - Missense	NEUTRAL	.10896	Confirmed somatic variant	PMID: 27149842	NS	102
TRH	ENST00000302649	DCG_04	central_nervous_system	glioma	25113115	c.121G>A	p.G41S	Substitution - Missense	NEUTRAL	.12859	Confirmed somatic variant	PMID: 28852847	NS	41
TRH	ENST00000302649	ESO-859	oesophagus	carcinoma	25113892	c.182G>A	p.R61Q	Substitution - Missense	NEUTRAL	.08265	Variant of unknown origin	PMID: 23525077	primary	61
TRH	ENST00000302649	S00941_1	lung	carcinoma	25113587	c.555C>T	p.R185=	Substitution - coding silent	NEUTRAL	.40749	Confirmed somatic variant	PMID: 26168399	primary	185
TRH	ENST00000302649	TCGA-AM-5820-01	large_intestine	carcinoma	25113389	c.384T>C	p.D128=	Substitution - coding silent	NEUTRAL	.01502	Confirmed somatic variant	PMID: N/A	NS	128
TRH	ENST00000302649	ESO-017	oesophagus	carcinoma	25113191	c.111G>A	p.A37=	Substitution - coding silent	NEUTRAL	.02048	Reported in another cancer sample as somatic	PMID: 23525077	primary	37
TRH	ENST00000302649	TCGA-EB-A6QY-01	skin	malignant_melanoma	25113201	c.25G>A	p.A9T	Substitution - Missense	NEUTRAL	.12917	Confirmed somatic variant	PMID: N/A	NS	9
TRH	ENST00000302649	TCGA-BF-A1PU-01	skin	malignant_melanoma	25113262	c.60C>A	p.P20=	Substitution - coding silent	NEUTRAL	.03228	Confirmed somatic variant	PMID: N/A	primary	20
TRH	ENST00000302649	pfg317T	stomach	carcinoma	25113977	c.8G>A	p.G3D	Substitution - Missense	NEUTRAL	.24635	Confirmed somatic variant	PMID: 24816253	NS	3
TRH	ENST00000302649	T106	large_intestine	carcinoma	25113201	c.25G>A	p.A9T	Substitution - Missense	NEUTRAL	.12917	Confirmed somatic variant	PMID: 27149842	NS	9
TRH	ENST00000302649	PR-00-160	prostate	carcinoma	25112952	c.510G>A	p.E170=	Substitution - coding silent	NEUTRAL	.01472	Reported in another cancer sample as somatic	PMID: 22610119	primary	170
TRH	ENST00000302649	T112	large_intestine	carcinoma	25113461	c.85G>A	p.A29T	Substitution - Missense	NEUTRAL	.12928	Confirmed somatic variant	PMID: 27149842	NS	29
TRH	ENST00000302649	TCGA-D6-6516-01	upper_aerodigestive_tract	carcinoma	25113507	c.535G>A	p.D179N	Substitution - Missense	NEUTRAL	.04758	Confirmed somatic variant	PMID: N/A	NS	179
TRH	ENST00000302649	ICGC_GBM96_tumor	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	25113199	c.-439C>T	p.?	Unknown	NEUTRAL	.01131	Confirmed somatic variant	PMID: N/A	primary	0
TRH	ENST00000302649	TCGA-FV-A4ZP-01	liver	carcinoma	25113252	c.453G>T	p.R151=	Substitution - coding silent		.58991	Confirmed somatic variant	PMID: N/A	NS	151
TRH	ENST00000302649	T3641	large_intestine	carcinoma	25113500	c.545C>A	p.P182H	Substitution - Missense	NEUTRAL	.09079	Confirmed somatic variant	PMID: 27149842	NS	182
TRH	ENST00000302649	TCGA-A7-A5ZV-01	breast	carcinoma	25113062	c.221T>C	p.I74T	Substitution - Missense	NEUTRAL	.00887	Confirmed somatic variant	PMID: N/A	NS	74
TRH	ENST00000302649	T197	large_intestine	carcinoma	25113299	c.419G>A	p.R140H	Substitution - Missense	PATHOGENIC	.91123	Confirmed somatic variant	PMID: 27149842	NS	140

Showing 1 to 20 of 95 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF05438	TRH	Thyrotropin-releasing hormone (TRH)	6-206			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.547	0.621
Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Cardiac Arrhythmia	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Body Rocking	Mental Disorders ;	0.547	0.621
Catalepsy	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Mental Depression	Behavior and Behavior Mechanisms ;	0.547	0.621
Depressive disorder	Mental Disorders ;	0.547	0.621
Endometriosis	Female Urogenital Diseases and Pregnancy Complications ;	0.547	0.621
Head Banging	Mental Disorders ;	0.547	0.621
Hypertensive disease	Cardiovascular Diseases ;	0.547	0.621
Hypothermia, natural	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Jacksonian Seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Learning Disorders	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.547	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.547	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.547	0.621
Narcolepsy	Nervous System Diseases ; Mental Disorders ;	0.547	0.621
Pain	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Respiratory Insufficiency	Respiratory Tract Diseases ;	0.547	0.621
Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Stereotypic Movement Disorder	Mental Disorders ;	0.547	0.621
Tachycardia	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Saturnine Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Unconscious State	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Unipolar Depression	Mental Disorders ;	0.547	0.621
Tachyarrhythmia	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Stupor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Senile Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Complex partial seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Hypothalamic hypothyroidism	N/A	0.547	0.621
Waxy flexibility	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Hysterical amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Temporary Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Pain, Burning	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Ache	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Radiating pain	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Persistent Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Continuous Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Intermittent Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Fine Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Coarse Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Massive Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Action Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Passive Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Static Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Resting Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Darkness Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Narcosis	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Generalized seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Seizures, Clonic	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Respiratory Depression	Respiratory Tract Diseases ;	0.547	0.621
Tremor, Perioral	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tremor, Limb	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tremor, Muscle	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Nerve Tremors	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tremor, Neonatal	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Dissociative Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Global Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Endometrioma	Female Urogenital Diseases and Pregnancy Complications ;	0.547	0.621
Visual seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tonic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Epileptic drop attack	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Hypothermia, Accidental	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Coma, Post-Head Injury	Nervous System Diseases ; Wounds and Injuries ;	0.547	0.621
Seizures, Somatosensory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Seizures, Auditory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Olfactory seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Gustatory seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Vertiginous seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Bradycardia	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Pain, Splitting	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Pain, Crushing	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tonic - clonic seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tactile Amnesia	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Amnestic State	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.547	0.621
Non-epileptic convulsion	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Single Seizure	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Atonic Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Adult Learning Disorders	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.547	0.621
Learning Disturbance	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.547	0.621
Learning Disabilities	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.547	0.621
Narcolepsy-Cataplexy Syndrome	Nervous System Diseases ; Mental Disorders ;	0.547	0.621
Pain, Migratory	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Suffering, Physical	Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Convulsive Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Seizures, Focal	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Seizures, Sensory	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Pill Rolling Tremor	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Tremor, Semirhythmic	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Coma, Post-Traumatic, Prolonged	Nervous System Diseases ; Wounds and Injuries ;	0.547	0.621
Respiratory Failure	Respiratory Tract Diseases ;	0.547	0.621
Developmental Academic Disorder	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.547	0.621
Involuntary Quiver	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.547	0.621
Nonepileptic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
THYROTROPIN-RELEASING HORMONE DEFICIENCY	N/A	0.547	0.621
Convulsions	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Epileptic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Myoclonic Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
Generalized Absence Seizures	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.547	0.621
NO RESULT FOUND

Description:	thyrotropin releasing hormone [Source:RGD Symbol;Acc:3903]
Synonyms:	TRH01, Pro-TRH, Trf, THR
Other ID(s):	ENSRNOG00000011824
Protein Accession Numbers:	XP_006236961, NP_037178
Statistics:	ClinVar(10) gnomAD(284) COSMIC(95) PTM(1)

Classification of Clinicial Significance of ClinVar Data