chr15:63351866:G>A Detail (hg19) (TPM1)

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

Genome

Assembly	Position
hg19	chr15:63,351,866-63,351,866
hg38	chr15:63,059,667-63,059,667 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001330346.1:c.371G>A	NP_001317275.1:p.Arg124His
	NM_001301289.1:c.371G>A	NP_001288218.1:p.Arg124His
	NM_000366.5:c.479G>A	NP_000357.3:p.Arg160His
	NM_001018005.1:c.479G>A	NP_001018005.1:p.Arg160His
	NM_001301244.1:c.479G>A	NP_001288173.1:p.Arg160His
	NM_001018020.1:c.479G>A	NP_001018020.1:p.Arg160His
	NM_001018008.1:c.371G>A	NP_001018008.1:p.Arg124His
	NM_001018006.1:c.479G>A	NP_001018006.1:p.Arg160His
	NM_001018004.1:c.479G>A	NP_001018004.1:p.Arg160His
	NM_001330351.1:c.371G>A	NP_001317280.1:p.Arg124His
	NM_001018007.1:c.479G>A	NP_001018007.1:p.Arg160His
Ensemble	ENST00000559281.6:c.371G>A	ENST00000559281.6:p.Arg124His
	ENST00000404484.9:c.371G>A	ENST00000404484.9:p.Arg124His
	ENST00000288398.10:c.479G>A	ENST00000288398.10:p.Arg160His
	ENST00000403994.9:c.479G>A	ENST00000403994.9:p.Arg160His
	ENST00000560615.6:c.101G>A	ENST00000560615.6:p.Arg34His
	ENST00000651704.1:c.101G>A	ENST00000651704.1:p.Arg34His
	ENST00000651577.1:c.101G>A	ENST00000651577.1:p.Arg34His
	ENST00000714013.1:c.605G>A	ENST00000714013.1:p.Arg202His
	ENST00000357980.9:c.605G>A	ENST00000357980.9:p.Arg202His
	ENST00000559397.6:c.479G>A	ENST00000559397.6:p.Arg160His
	ENST00000714014.1:c.479G>A	ENST00000714014.1:p.Arg160His
	ENST00000334895.10:c.371G>A	ENST00000334895.10:p.Arg124His
	ENST00000558910.3:c.371G>A	ENST00000558910.3:p.Arg124His
	ENST00000560970.6:c.479G>A	ENST00000560970.6:p.Arg160His
	ENST00000358278.7:c.479G>A	ENST00000358278.7:p.Arg160His
	ENST00000561266.6:c.479G>A	ENST00000561266.6:p.Arg160His
	ENST00000560959.5:c.371G>A	ENST00000560959.5:p.Arg124His
	ENST00000559556.5:c.479G>A	ENST00000559556.5:p.Arg160His
	ENST00000317516.12:c.371G>A	ENST00000317516.12:p.Arg124His
	ENST00000267996.11:c.479G>A	ENST00000267996.11:p.Arg160His
	ENST00000714017.1:c.479G>A	ENST00000714017.1:p.Arg160His

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	2020-06-18	criteria provided, single submitter	not provided	de novo germline	Detail
Likely pathogenic	2010-09-27	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Likely pathogenic	2020-01-11	criteria provided, single submitter	dilated cardiomyopathy 1Y	unknown	Detail
Pathogenic	2023-11-27	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Cardiomyopathy, Dilated, 1y	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) AND Dilated cardiomyopathy 1Y	ClinVar	Detail
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NA	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: rs199476311 dbSNP
Genome: hg19
Position: chr15:63,351,866-63,351,866
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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