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

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
11-18042538-T-G	ENST00000250018	p.Ter445TyrextTer2	Stop Lost	0	0	0	rs1312679007
11-18042540-A-T	ENST00000250018	p.Ter445LysextTer2	Stop Lost	0	0	0	rs778498226
11-18042542-A-G	ENST00000250018	p.Ile444Thr	Missense Variant	0	0	0	rs1245434848
11-18042545-C-G	ENST00000250018	p.Ser443Thr	Missense Variant	0	0	0	rs1267083031
11-18042547-C-G	ENST00000250018	p.Pro442Pro	Synonymous Variant	0	0	0	rs745308057
11-18042548-G-A	ENST00000250018	p.Pro442Leu	Missense Variant	0	0	0	rs147642427
11-18042551-T-G	ENST00000250018	p.Lys441Thr	Missense Variant	0	0	0	rs779663112
11-18042553-C-T	ENST00000250018	p.Arg440Arg	Synonymous Variant	0	0	0	rs1458829470
11-18042561-C-T	ENST00000250018	p.Val438Ile	Missense Variant	0	0	0	rs770411047
11-18042565-A-T	ENST00000250018	p.Ala436Ala	Synonymous Variant	0	0	0	rs768975244
11-18042571-G-A	ENST00000250018	p.Ala434Ala	Synonymous Variant	0	0	0	rs776939108
11-18042571-G-GAACATCGA	ENST00000250018	p.Leu435ArgfsTer23	Frameshift Variant	0	0	0	rs776939108	lc_lof
11-18042572-GC-G	ENST00000250018	p.Ala434ProfsTer21	Frameshift Variant	0	0	0	rs1423539815	lc_lof
11-18042573-C-T	ENST00000250018	p.Ala434Thr	Missense Variant	0	0	0	rs748679389
11-18042577-A-ATG	ENST00000250018	p.Asp433MetfsTer23	Frameshift Variant	0	0	0	rs1370695188	lc_lof
11-18042586-A-G	ENST00000250018	p.Asp429Asp	Synonymous Variant	0	0	0	rs371231642
11-18042587-T-C	ENST00000250018	p.Asp429Gly	Missense Variant	0	0	0	rs1170033951
11-18042588-C-T	ENST00000250018	p.Asp429Asn	Missense Variant	0	0	0	rs564885046
11-18042589-G-A	ENST00000250018	p.Leu428Leu	Synonymous Variant	0	0	0	rs141921745
11-18042597-G-A	ENST00000250018	p.His426Tyr	Missense Variant	21	31392	0.000669	rs143049345

Showing 1 to 20 of 347 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TPH1	P17752	Phosphorylation	225	T225-p	SNFLKERtGFsIRPV	50.99	25314813
TPH1	P17752	Phosphorylation	228	S228-p	LKERtGFsIRPVAGY	50.99	25314818
TPH1	P17752	Phosphorylation	260	S260-p	TQYVRHSsDPFYTPE	50.99	36439500
TPH1	P17752	Acetylation	33	K33-ac	NEVGGLIkALKIFQE	50.99	89113292
TPH1	P17752	Phosphorylation	373	Y373-p	ITTFQDVyFVSESFE	50.99	23154724
TPH1	P17752	Phosphorylation	401	Y401-p	KRPFGVKyNPyTRSI	50.99	464359
TPH1	P17752	Phosphorylation	404	Y404-p	FGVKyNPyTRSIQIL	50.99	464360
TPH1	P17752	Phosphorylation	58	S58-p	RKSKRRNsEFEIFVD	50.99	451575

Showing 1 to 8 of 8 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

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
TPH1	ENST00000250018	TCGA-66-2778-01	lung	carcinoma	22704697	c.50G>C	p.R17T	Substitution - Missense	PATHOGENIC	.96078	Variant of unknown origin	PMID: N/A	primary	17
TPH1	ENST00000250018	TCGA-EE-A3AG-06	skin	malignant_melanoma	22705522	c.35C>T	p.S12F	Substitution - Missense	PATHOGENIC	.98208	Confirmed somatic variant	PMID: N/A	NS	12
TPH1	ENST00000250018	TCGA-AJ-A2QN-01	endometrium	carcinoma	22706847	c.702T>C	p.G234=	Substitution - coding silent		.53072	Confirmed somatic variant	PMID: N/A	NS	234
TPH1	ENST00000250018	RK144_C01	liver	carcinoma	22705350	c.118-654T>C	p.?	Unknown	NEUTRAL	.04324	Confirmed somatic variant	PMID: N/A	NS	0
TPH1	ENST00000250018	S02209_1	lung	carcinoma	22705474	c.1157T>C	p.M386T	Substitution - Missense	PATHOGENIC	.98802	Confirmed somatic variant	PMID: 26168399	primary	386
TPH1	ENST00000250018	HCC20T	liver	carcinoma	22706882	c.668-168C>G	p.?	Unknown	NEUTRAL	.05607	Variant of unknown origin	PMID: N/A	primary	0
TPH1	ENST00000250018	T368	large_intestine	carcinoma	22705573	c.897C>T	p.G299=	Substitution - coding silent		.68578	Confirmed somatic variant	PMID: 25344691	NS	299
TPH1	ENST00000250018	AOCS-123-1-7	ovary	carcinoma	22705210	c.403-817A>G	p.?	Unknown	NEUTRAL	.00298	Confirmed somatic variant	PMID: N/A	NS	0
TPH1	ENST00000250018	TCGA-43-2576-01	lung	carcinoma	22704197	c.392C>T	p.A131V	Substitution - Missense	PATHOGENIC	.99394	Confirmed somatic variant	PMID: N/A	NS	131
TPH1	ENST00000250018	T3152	large_intestine	carcinoma	22705286	c.886G>A	p.A296T	Substitution - Missense	PATHOGENIC	.96759	Confirmed somatic variant	PMID: 25344691	NS	296
TPH1	ENST00000250018	CHG-10-51040T	liver	other	22706445	c.667+68T>C	p.?	Unknown	NEUTRAL	.23844	Confirmed somatic variant	PMID: N/A	primary	0
TPH1	ENST00000250018	H2342	lung	carcinoma	22704589	c.337T>G	p.S113A	Substitution - Missense	PATHOGENIC	.98495	Variant of unknown origin	PMID: 29681454	NS	113
TPH1	ENST00000250018	TCGA-05-4397-01	lung	carcinoma	22704927	c.276A>C	p.P92=	Substitution - coding silent	PATHOGENIC	.8777	Variant of unknown origin	PMID: N/A	primary	92
TPH1	ENST00000250018	PD24336a	breast	carcinoma	22704978	c.403-1096G>A	p.?	Unknown	NEUTRAL	.00034	Confirmed somatic variant	PMID: N/A	NS	0
TPH1	ENST00000250018	TCGA-CM-5861-01	large_intestine	carcinoma	22705081	c.667+196C>T	p.?	Unknown	NEUTRAL	.01251	Confirmed somatic variant	PMID: 22810696	NS	0
TPH1	ENST00000250018	S01516_1	lung	carcinoma	22705720	c.816T>C	p.H272=	Substitution - coding silent	PATHOGENIC	.79147	Confirmed somatic variant	PMID: 26168399	primary	272
TPH1	ENST00000250018	TCGA-AJ-A3EK-01	endometrium	carcinoma	22705595	c.349C>T	p.H117Y	Substitution - Missense	PATHOGENIC	.759	Confirmed somatic variant	PMID: N/A	NS	117
TPH1	ENST00000250018	CPCG0455-F1	prostate	carcinoma	22705364	c.-463A>T	p.?	Unknown	NEUTRAL	.08399	Confirmed somatic variant	PMID: N/A	primary	0
TPH1	ENST00000250018	8052570	pancreas	carcinoma	22704939	c.*2899A>G	p.?	Unknown	NEUTRAL	.00315	Confirmed somatic variant	PMID: N/A	NS	0
TPH1	ENST00000250018	TCGA-AJ-A3EK-01	endometrium	carcinoma	22705589	c.770G>T	p.R257I	Substitution - Missense	PATHOGENIC	.98389	Confirmed somatic variant	PMID: N/A	NS	257

Showing 1 to 20 of 167 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
PF00351	Biopterin_H	Biopterin-dependent aromatic amino acid hydroxylase	106-436			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.611	0.586
Bipolar Disorder	Mental Disorders ;	0.611	0.586
Mental Depression	Behavior and Behavior Mechanisms ;	0.611	0.586
Depressive disorder	Mental Disorders ;	0.611	0.586
Pulmonary Hypertension	Respiratory Tract Diseases ;	0.611	0.586
Kidney Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.611	0.586
Major depression, single episode	N/A	0.611	0.586
Schizophrenia	Mental Disorders ;	0.611	0.586
Unipolar Depression	Mental Disorders ;	0.611	0.586
Severe major depression with psychotic features	N/A	0.611	0.586
Mood Disorders	Mental Disorders ;	0.611	0.586
Malignant neoplasm of kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.611	0.586
Major Depressive Disorder	Mental Disorders ;	0.611	0.586
NO RESULT FOUND

Description:	trachealess [Source:FlyBase;Acc:FBgn0035187]
Synonyms:	TRHn, Dmel_CG9122, CG9122, TRH, Dmel\CG9122, DTRH, CT9937
Other ID(s):	FBgn0035187
Protein Accession Numbers:	NP_612080
Statistics:	ClinVar(3) gnomAD(347) COSMIC(167) PTM(8)

Classification of Clinicial Significance of ClinVar Data