chr15:63059645:C>G Detail (hg38) (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	chr15:63,351,844-63,351,844 View the variant detail on this assembly version.
hg38	chr15:63,059,645-63,059,645

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.457C>G	NP_001018007.1:p.His153Asp
	NM_000366.5:c.457C>G	NP_000357.3:p.His153Asp
	NM_001330351.1:c.349C>G	NP_001317280.1:p.His117Asp
	NM_001018008.1:c.349C>G	NP_001018008.1:p.His117Asp
	NM_001018006.1:c.457C>G	NP_001018006.1:p.His153Asp
	NM_001018005.1:c.457C>G	NP_001018005.1:p.His153Asp
	NM_001301244.1:c.457C>G	NP_001288173.1:p.His153Asp
	NM_001301289.1:c.349C>G	NP_001288218.1:p.His117Asp
	NM_001330346.1:c.349C>G	NP_001317275.1:p.His117Asp
	NM_001018020.1:c.457C>G	NP_001018020.1:p.His153Asp
	NM_001018004.1:c.457C>G	NP_001018004.1:p.His153Asp
Ensemble	ENST00000267996.11:c.457C>G	ENST00000267996.11:p.His153Asp
	ENST00000288398.10:c.457C>G	ENST00000288398.10:p.His153Asp
	ENST00000317516.12:c.349C>G	ENST00000317516.12:p.His117Asp
	ENST00000334895.10:c.349C>G	ENST00000334895.10:p.His117Asp
	ENST00000357980.9:c.583C>G	ENST00000357980.9:p.His195Asp
	ENST00000358278.7:c.457C>G	ENST00000358278.7:p.His153Asp
	ENST00000403994.9:c.457C>G	ENST00000403994.9:p.His153Asp
	ENST00000404484.9:c.349C>G	ENST00000404484.9:p.His117Asp
	ENST00000558910.3:c.349C>G	ENST00000558910.3:p.His117Asp
	ENST00000559281.6:c.349C>G	ENST00000559281.6:p.His117Asp
	ENST00000559397.6:c.457C>G	ENST00000559397.6:p.His153Asp
	ENST00000559556.5:c.457C>G	ENST00000559556.5:p.His153Asp
	ENST00000560615.6:c.79C>G	ENST00000560615.6:p.His27Asp
	ENST00000560959.5:c.349C>G	ENST00000560959.5:p.His117Asp
	ENST00000560970.6:c.457C>G	ENST00000560970.6:p.His153Asp
	ENST00000561266.6:c.457C>G	ENST00000561266.6:p.His153Asp
	ENST00000651577.1:c.79C>G	ENST00000651577.1:p.His27Asp
	ENST00000651704.1:c.79C>G	ENST00000651704.1:p.His27Asp
	ENST00000714013.1:c.583C>G	ENST00000714013.1:p.His195Asp
	ENST00000714014.1:c.457C>G	ENST00000714014.1:p.His153Asp
	ENST00000714017.1:c.457C>G	ENST00000714017.1:p.His153Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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
Conflicting interpretations of pathogenicity	2018-08-06	criteria provided, conflicting interpretations	hypertrophic cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) 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: rs397516372 dbSNP
Genome: hg38
Position: chr15:63,059,645-63,059,645
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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