chr15:63349227:T>C Detail (hg19) (TPM1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr15:63,349,227-63,349,227
hg38	chr15:63,057,028-63,057,028 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001301289.1:c.176T>C	NP_001288218.1:p.Val59Ala
	NM_001330346.1:c.176T>C	NP_001317275.1:p.Val59Ala
	NM_001018005.1:c.284T>C	NP_001018005.1:p.Val95Ala
	NM_001301244.1:c.284T>C	NP_001288173.1:p.Val95Ala
	NM_000366.5:c.284T>C	NP_000357.3:p.Val95Ala
	NM_001018020.1:c.284T>C	NP_001018020.1:p.Val95Ala
	NM_001018008.1:c.176T>C	NP_001018008.1:p.Val59Ala
	NM_001018004.1:c.284T>C	NP_001018004.1:p.Val95Ala
	NM_001018006.1:c.284T>C	NP_001018006.1:p.Val95Ala
	NM_001018007.1:c.284T>C	NP_001018007.1:p.Val95Ala
	NM_001330351.1:c.176T>C	NP_001317280.1:p.Val59Ala
Ensemble	ENST00000404484.9:c.176T>C	ENST00000404484.9:p.Val59Ala
	ENST00000559281.6:c.176T>C	ENST00000559281.6:p.Val59Ala
	ENST00000651704.1:c.-95T>C
	ENST00000560615.6:c.-95T>C
	ENST00000403994.9:c.284T>C	ENST00000403994.9:p.Val95Ala
	ENST00000288398.10:c.284T>C	ENST00000288398.10:p.Val95Ala
	ENST00000714013.1:c.410T>C	ENST00000714013.1:p.Val137Ala
	ENST00000651577.1:c.-95T>C
	ENST00000559397.6:c.284T>C	ENST00000559397.6:p.Val95Ala
	ENST00000714014.1:c.284T>C	ENST00000714014.1:p.Val95Ala
	ENST00000357980.9:c.410T>C	ENST00000357980.9:p.Val137Ala
	ENST00000334895.10:c.176T>C	ENST00000334895.10:p.Val59Ala
	ENST00000560970.6:c.284T>C	ENST00000560970.6:p.Val95Ala
	ENST00000558910.3:c.176T>C	ENST00000558910.3:p.Val59Ala
	ENST00000560959.5:c.176T>C	ENST00000560959.5:p.Val59Ala
	ENST00000559556.5:c.284T>C	ENST00000559556.5:p.Val95Ala
	ENST00000358278.7:c.284T>C	ENST00000358278.7:p.Val95Ala
	ENST00000561266.6:c.284T>C	ENST00000561266.6:p.Val95Ala
	ENST00000714017.1:c.284T>C	ENST00000714017.1:p.Val95Ala
	ENST00000267996.11:c.284T>C	ENST00000267996.11:p.Val95Ala
	ENST00000317516.12:c.176T>C	ENST00000317516.12:p.Val59Ala

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

TPM1

Type	Database	ID	Link
Gene	MIM	191010	OMIM
	HGNC	12010	HGNC
	Ensembl	ENSG00000140416	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-01-02	no assertion criteria provided	hypertrophic cardiomyopathy 3	germline	Detail
Pathogenic	2020-01-09	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-01-10	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2020-09-25	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	NA	CLINVAR		Detail
0.127	Cardiomyopathies	Sequencing and restriction digestion analysis demonstrated a TPM1 mutation V95A ...	BeFree	11136687	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) AND Hypertrophic cardiomyopathy 3	ClinVar	Detail
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Sequencing and restriction digestion analysis demonstrated a TPM1 mutation V95A that cosegregated wi...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs104894504 dbSNP
Genome: hg19
Position: chr15:63,349,227-63,349,227
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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