ConVarT

ClinVar Data

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

Missense Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
7-75933380-C-G	ENST00000429938	p.Pro2Ala	Missense Variant	0	0	0	rs544435502
7-75933382-C-T	ENST00000429938	p.Pro2Pro	Synonymous Variant	0	0	0	rs916533048
7-75933390-C-T	ENST00000429938	p.Ala5Val	Missense Variant	0	0	0	rs1178692879
7-75933391-C-T	ENST00000429938	p.Ala5Ala	Synonymous Variant	0	0	0	rs1381669292
7-75933393-C-T	ENST00000429938	p.Thr6Met	Missense Variant	0	0	0	rs1431930864
7-75933395-C-T	ENST00000429938	p.Gln7Ter	Stop Gained	0	0	0	rs863225023	lc_lof
7-75933396-A-C	ENST00000429938	p.Gln7Pro	Missense Variant	0	0	0	rs751308472
7-75933397-G-A	ENST00000429938	p.Gln7Gln	Synonymous Variant	1	31380	0.000032	rs1179359109
7-75933402-A-T	ENST00000429938	p.Asn9Ile	Missense Variant	0	0	0	rs931154885
7-75933403-C-G	ENST00000429938	p.Asn9Lys	Missense Variant	0	0	0	rs754873919
7-75933403-C-T	ENST00000429938	p.Asn9Asn	Synonymous Variant	0	0	0	rs754873919
7-75933404-G-A	ENST00000429938	p.Glu10Lys	Missense Variant	0	0	0	rs150110356
7-75933409-C-A	ENST00000429938	p.Ile11Ile	Synonymous Variant	3	31376	0.000096	rs372981842
7-75933411-C-G	ENST00000429938	p.Thr12Ser	Missense Variant	1	31380	0.000032	rs1422978230
7-75933413-A-G	ENST00000429938	p.Ile13Val	Missense Variant	0	0	0	rs769271678
7-75933414-T-G	ENST00000429938	p.Ile13Ser	Missense Variant	3	31374	0.000096	rs1368947902
7-75933415-C-G	ENST00000429938	p.Ile13Met	Missense Variant	0	0	0	rs1386301653
7-75933420-T-C	ENST00000429938	p.Val15Ala	Missense Variant	0	0	0	rs1300426791
7-75933426-T-C	ENST00000429938	p.Phe17Ser	Missense Variant	0	0	0	rs777225392
7-75933426-T-G	ENST00000429938	p.Phe17Cys	Missense Variant	0	0	0	rs777225392

Showing 1 to 20 of 58 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

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
HSPB1_ENST00000429938	ENST00000429938	2857126	urinary_tract	carcinoma	51602770	c.-54A>G	p.?	Unknown		.5734	Confirmed somatic variant	PMID: 25096233	NS	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-DG-A2KK-01	cervix	carcinoma	51602633	c.-16G>A	p.?	Unknown	PATHOGENIC	.70847	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	2014_Lung_sq_18_T	lung	carcinoma	51602579	c.-201A>C	p.?	Unknown	NEUTRAL	.04678	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-DG-A2KK-01	cervix	carcinoma	51602631	c.-27G>A	p.?	Unknown	PATHOGENIC	.95806	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	RK135_C01	liver	carcinoma	51602744	c.*29G>T	p.?	Unknown	NEUTRAL	.12646	Confirmed somatic variant	PMID: N/A	NS	0
HSPB1_ENST00000429938	ENST00000429938	195	stomach	carcinoma	51602796	c.-15A>G	p.?	Unknown	PATHOGENIC	.8215	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-UU-A93S-01	breast	carcinoma	51602648	c.6C>G	p.P2=	Substitution - coding silent	PATHOGENIC	.87236	Confirmed somatic variant	PMID: N/A	primary	2
HSPB1_ENST00000429938	ENST00000429938	GCTK_16444_T	stomach	carcinoma	51602664	c.-67del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	CHG-13-08463T	liver	other	51602645	c.-77+44T>G	p.?	Unknown	NEUTRAL	.00545	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	SDC11	salivary_gland	carcinoma	51602360	c.-44C>T	p.?	Unknown	NEUTRAL	.18168	Confirmed somatic variant	PMID: 27103403	recurrent	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-AA-A022-01	large_intestine	carcinoma	51602668	c.-4C>A	p.?	Unknown	NEUTRAL	.31424	Confirmed somatic variant	PMID: N/A	NS	0
HSPB1_ENST00000429938	ENST00000429938	2014_Lung_sq_08_T	lung	carcinoma	51602579	c.-201A>C	p.?	Unknown	NEUTRAL	.04678	Confirmed somatic variant	PMID: N/A	primary	0
HSPB1_ENST00000429938	ENST00000429938	5-VS047-T1	skin	carcinoma	51602437	c.-2C>T	p.?	Unknown	PATHOGENIC	.92989	Confirmed somatic variant	PMID: 26950094	NS	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-OD-A75X-06	skin	malignant_melanoma	51602780	c.-178C>T	p.?	Unknown	NEUTRAL	.0034	Confirmed somatic variant	PMID: N/A	NS	0
HSPB1_ENST00000429938	ENST00000429938	LIM2551	large_intestine	carcinoma	51602664	c.-67del	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 24755471	NS	0
HSPB1_ENST00000429938	ENST00000429938	HCT15	large_intestine	carcinoma	51602770	c.-54A>G	p.?	Unknown		.5734	Reported in another cancer sample as somatic	PMID: 24755471	NS	0
HSPB1_ENST00000429938	ENST00000429938	TCGA-39-5030-01	lung	carcinoma	51602732	c.108C>T	p.A36=	Substitution - coding silent	NEUTRAL	.31325	Variant of unknown origin	PMID: N/A	primary	36
HSPB1_ENST00000429938	ENST00000429938	Pat_30_A	NS	malignant_melanoma	51602406	c.-86G>A	p.?	Unknown	PATHOGENIC	.97574	Confirmed somatic variant	PMID: 24265153	NS	0
HSPB1_ENST00000429938	ENST00000429938	587332	large_intestine	carcinoma	51602790	c.-125G>A	p.?	Unknown	PATHOGENIC	.85762	Confirmed somatic variant	PMID: 22895193	primary	0
HSPB1_ENST00000429938	ENST00000429938	699_T	lung	carcinoma	51602558	c.*36C>T	p.?	Unknown	NEUTRAL	.2296	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 20 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Squamous cell carcinoma	Neoplasms ;	0.468	0.69
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.468	0.69
Charcot-Marie-Tooth Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Contact Dermatitis	Skin and Connective Tissue Diseases ;	0.468	0.69
Heart failure	Cardiovascular Diseases ;	0.468	0.69
Congestive heart failure	Cardiovascular Diseases ;	0.468	0.69
HIV Infections	Virus Diseases ; Immune System Diseases ;	0.468	0.69
Hyperplasia	Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Left-Sided Heart Failure	Cardiovascular Diseases ;	0.468	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.468	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Mouth Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Multiple Myeloma	Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.468	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.468	0.69
Reperfusion Injury	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.468	0.69
Tongue Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.468	0.69
Malignant neoplasm of tongue	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Malignant neoplasm of mouth	Neoplasms ; Stomatognathic Diseases ;	0.468	0.69
Contact hypersensitivity	Skin and Connective Tissue Diseases ;	0.468	0.69
Heart Failure, Right-Sided	Cardiovascular Diseases ;	0.468	0.69
Petit mal status	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Grand Mal Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Complex Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Distal Muscular Dystrophies	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Status Epilepticus, Subclinical	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Non-Convulsive Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Simple Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.468	0.69
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.468	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.468	0.69
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.468	0.69
Spinal muscular atrophy, Jerash type	Nervous System Diseases ;	0.468	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.468	0.69
Myocardial Failure	Cardiovascular Diseases ;	0.468	0.69
Heart Decompensation	Cardiovascular Diseases ;	0.468	0.69
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.468	0.69
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Nervous System Diseases ;	0.468	0.69
Distal Hereditary Motor Neuropathy, Type II	Nervous System Diseases ;	0.468	0.69
HIV Coinfection	Virus Diseases ; Immune System Diseases ;	0.468	0.69
NO RESULT FOUND

Description:	heat shock protein family B (small) member 1 [Source:HGNC Symbol;Acc:HGNC:5246]
Synonyms:	SP27, HS.76067, CMT2F, HSP28, HMN2B, SRP27, Hsp25, HEL-S-102
Other ID(s):	ENSG00000106211, HGNC:5246
Protein Accession Numbers:	NP_001531, ENST00000248553.6, ENST00000447574, ENST00000248553, ENST00000429938
Statistics:	gnomAD(58) COSMIC(20)

Classification of Clinicial Significance of ClinVar Data