chr15:63059663:G>A Detail (hg38) (TPM1)

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

Information

Genome

Assembly	Position
hg19	chr15:63,351,862-63,351,862 View the variant detail on this assembly version.
hg38	chr15:63,059,663-63,059,663

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.475G>A	NP_001018007.1:p.Asp159Asn
	NM_000366.5:c.475G>A	NP_000357.3:p.Asp159Asn
	NM_001330351.1:c.367G>A	NP_001317280.1:p.Asp123Asn
	NM_001018008.1:c.367G>A	NP_001018008.1:p.Asp123Asn
	NM_001018006.1:c.475G>A	NP_001018006.1:p.Asp159Asn
	NM_001018005.1:c.475G>A	NP_001018005.1:p.Asp159Asn
	NM_001301244.1:c.475G>A	NP_001288173.1:p.Asp159Asn
	NM_001301289.1:c.367G>A	NP_001288218.1:p.Asp123Asn
	NM_001330346.1:c.367G>A	NP_001317275.1:p.Asp123Asn
	NM_001018020.1:c.475G>A	NP_001018020.1:p.Asp159Asn
	NM_001018004.1:c.475G>A	NP_001018004.1:p.Asp159Asn
Ensemble	ENST00000267996.11:c.475G>A	ENST00000267996.11:p.Asp159Asn
	ENST00000288398.10:c.475G>A	ENST00000288398.10:p.Asp159Asn
	ENST00000317516.12:c.367G>A	ENST00000317516.12:p.Asp123Asn
	ENST00000334895.10:c.367G>A	ENST00000334895.10:p.Asp123Asn
	ENST00000357980.9:c.601G>A	ENST00000357980.9:p.Asp201Asn
	ENST00000358278.7:c.475G>A	ENST00000358278.7:p.Asp159Asn
	ENST00000403994.9:c.475G>A	ENST00000403994.9:p.Asp159Asn
	ENST00000404484.9:c.367G>A	ENST00000404484.9:p.Asp123Asn
	ENST00000558910.3:c.367G>A	ENST00000558910.3:p.Asp123Asn
	ENST00000559281.6:c.367G>A	ENST00000559281.6:p.Asp123Asn
	ENST00000559397.6:c.475G>A	ENST00000559397.6:p.Asp159Asn
	ENST00000559556.5:c.475G>A	ENST00000559556.5:p.Asp159Asn
	ENST00000560615.6:c.97G>A	ENST00000560615.6:p.Asp33Asn
	ENST00000560959.5:c.367G>A	ENST00000560959.5:p.Asp123Asn
	ENST00000560970.6:c.475G>A	ENST00000560970.6:p.Asp159Asn
	ENST00000561266.6:c.475G>A	ENST00000561266.6:p.Asp159Asn
	ENST00000651577.1:c.97G>A	ENST00000651577.1:p.Asp33Asn
	ENST00000651704.1:c.97G>A	ENST00000651704.1:p.Asp33Asn
	ENST00000714013.1:c.601G>A	ENST00000714013.1:p.Asp201Asn
	ENST00000714014.1:c.475G>A	ENST00000714014.1:p.Asp159Asn
	ENST00000714017.1:c.475G>A	ENST00000714017.1:p.Asp159Asn

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	COSM4440379	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2017-08-21	criteria provided, multiple submitters, no conflicts	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2022-06-14	criteria provided, single submitter	not provided	germline	Detail
no classifications from unflagged records	2023-10-31	no classifications from unflagged records	dilated cardiomyopathy 1Y	de novo	Detail
Pathogenic	2022-07-25	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2019-11-19	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2023-01-18	no assertion criteria provided	Left ventricular noncompaction 9	germline	Detail
Likely pathogenic	2018-05-30	criteria provided, single submitter	hypertrophic cardiomyopathy 3	de novo	Detail
Pathogenic	2022-03-31	criteria provided, single submitter	Familial 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.475G>A (p.Asp159Asn) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Dilated cardiomyopathy 1Y	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Left ventricular noncompaction 9	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Hypertrophic cardiomyopathy 3	ClinVar	Detail
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) AND Familial 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: rs397516373 dbSNP
Genome: hg38
Position: chr15:63,059,663-63,059,663
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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