chr15:63356280:A>G 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	chr15:63,356,280-63,356,280
hg38	chr15:63,064,081-63,064,081 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018008.1:c.664+1436A>G
	NM_001330351.1:c.664+1436A>G
	NM_001018007.1:c.772+1436A>G
	NM_001018006.1:c.772+1436A>G
	NM_001018004.1:c.772+1436A>G
	NM_000366.5:c.790A>G	NP_000357.3:p.Lys264Glu
	NM_001018005.1:c.790A>G	NP_001018005.1:p.Lys264Glu
	NM_001301244.1:c.790A>G	NP_001288173.1:p.Lys264Glu
	NM_001330346.1:c.682A>G	NP_001317275.1:p.Lys228Glu
	NM_001301289.1:c.664+1436A>G
	NM_001018020.1:c.772+1436A>G
Ensemble	ENST00000558910.3:c.682A>G	ENST00000558910.3:p.Lys228Glu
	ENST00000560970.6:c.790A>G	ENST00000560970.6:p.Lys264Glu
	ENST00000334895.10:c.664+1436A>G
	ENST00000317516.12:c.664+1436A>G
	ENST00000267996.11:c.772+1436A>G
	ENST00000714017.1:c.790A>G	ENST00000714017.1:p.Lys264Glu
	ENST00000358278.7:c.772+1436A>G
	ENST00000561266.6:c.790A>G	ENST00000561266.6:p.Lys264Glu
	ENST00000559556.5:c.772+1436A>G
	ENST00000288398.10:c.790A>G	ENST00000288398.10:p.Lys264Glu
	ENST00000403994.9:c.790A>G	ENST00000403994.9:p.Lys264Glu
	ENST00000560615.6:c.394+1436A>G
	ENST00000651704.1:c.394+1436A>G
	ENST00000559281.6:c.682A>G	ENST00000559281.6:p.Lys228Glu
	ENST00000404484.9:c.664+1436A>G
	ENST00000357980.9:c.898+1436A>G
	ENST00000714014.1:c.731+1477A>G
	ENST00000559397.6:c.772+1436A>G
	ENST00000651577.1:c.394+1436A>G
	ENST00000714013.1:c.916A>G	ENST00000714013.1:p.Lys306Glu

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	2017-06-30	criteria provided, single submitter	not specified	germline	Detail
Uncertain significance	2023-08-23	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.790A>G (p.Lys264Glu) AND not specified	ClinVar	Detail
NM_001018005.2(TPM1):c.790A>G (p.Lys264Glu) 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: rs397516390 dbSNP
Genome: hg19
Position: chr15:63,356,280-63,356,280
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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