chr15:63062635:T>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	chr15:63,354,834-63,354,834 View the variant detail on this assembly version.
hg38	chr15:63,062,635-63,062,635

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.762T>G	NP_001018007.1:p.Asp254Glu
	NM_000366.5:c.762T>G	NP_000357.3:p.Asp254Glu
	NM_001330351.1:c.654T>G	NP_001317280.1:p.Asp218Glu
	NM_001018008.1:c.654T>G	NP_001018008.1:p.Asp218Glu
	NM_001018006.1:c.762T>G	NP_001018006.1:p.Asp254Glu
	NM_001018005.1:c.762T>G	NP_001018005.1:p.Asp254Glu
	NM_001301244.1:c.762T>G	NP_001288173.1:p.Asp254Glu
	NM_001301289.1:c.654T>G	NP_001288218.1:p.Asp218Glu
	NM_001330346.1:c.654T>G	NP_001317275.1:p.Asp218Glu
	NM_001018020.1:c.762T>G	NP_001018020.1:p.Asp254Glu
	NM_001018004.1:c.762T>G	NP_001018004.1:p.Asp254Glu
Ensemble	ENST00000267996.11:c.762T>G	ENST00000267996.11:p.Asp254Glu
	ENST00000288398.10:c.762T>G	ENST00000288398.10:p.Asp254Glu
	ENST00000317516.12:c.654T>G	ENST00000317516.12:p.Asp218Glu
	ENST00000334895.10:c.654T>G	ENST00000334895.10:p.Asp218Glu
	ENST00000357980.9:c.888T>G	ENST00000357980.9:p.Asp296Glu
	ENST00000358278.7:c.762T>G	ENST00000358278.7:p.Asp254Glu
	ENST00000403994.9:c.762T>G	ENST00000403994.9:p.Asp254Glu
	ENST00000404484.9:c.654T>G	ENST00000404484.9:p.Asp218Glu
	ENST00000558910.3:c.654T>G	ENST00000558910.3:p.Asp218Glu
	ENST00000559281.6:c.654T>G	ENST00000559281.6:p.Asp218Glu
	ENST00000559397.6:c.762T>G	ENST00000559397.6:p.Asp254Glu
	ENST00000559556.5:c.762T>G	ENST00000559556.5:p.Asp254Glu
	ENST00000560615.6:c.384T>G	ENST00000560615.6:p.Asp128Glu
	ENST00000560959.5:c.654T>G	ENST00000560959.5:p.Asp218Glu
	ENST00000560970.6:c.762T>G	ENST00000560970.6:p.Asp254Glu
	ENST00000561266.6:c.762T>G	ENST00000561266.6:p.Asp254Glu
	ENST00000651577.1:c.384T>G	ENST00000651577.1:p.Asp128Glu
	ENST00000651704.1:c.384T>G	ENST00000651704.1:p.Asp128Glu
	ENST00000714013.1:c.888T>G	ENST00000714013.1:p.Asp296Glu
	ENST00000714014.1:c.731+31T>G
	ENST00000714017.1:c.762T>G	ENST00000714017.1:p.Asp254Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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
Uncertain significance	2020-07-08	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2017-04-11	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-08-18	criteria provided, single submitter	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.762T>G (p.Asp254Glu) AND not specified	ClinVar	Detail
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.762T>G (p.Asp254Glu) 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: rs727504354 dbSNP
Genome: hg38
Position: chr15:63,062,635-63,062,635
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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