chr15:63062230: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	chr15:63,354,429-63,354,429 View the variant detail on this assembly version.
hg38	chr15:63,062,230-63,062,230

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.655G>A	NP_001018007.1:p.Asp219Asn
	NM_000366.5:c.655G>A	NP_000357.3:p.Asp219Asn
	NM_001330351.1:c.547G>A	NP_001317280.1:p.Asp183Asn
	NM_001018008.1:c.547G>A	NP_001018008.1:p.Asp183Asn
	NM_001018006.1:c.655G>A	NP_001018006.1:p.Asp219Asn
	NM_001018005.1:c.655G>A	NP_001018005.1:p.Asp219Asn
	NM_001301244.1:c.655G>A	NP_001288173.1:p.Asp219Asn
	NM_001301289.1:c.547G>A	NP_001288218.1:p.Asp183Asn
	NM_001330346.1:c.547G>A	NP_001317275.1:p.Asp183Asn
	NM_001018020.1:c.655G>A	NP_001018020.1:p.Asp219Asn
	NM_001018004.1:c.655G>A	NP_001018004.1:p.Asp219Asn
Ensemble	ENST00000267996.11:c.655G>A	ENST00000267996.11:p.Asp219Asn
	ENST00000288398.10:c.655G>A	ENST00000288398.10:p.Asp219Asn
	ENST00000317516.12:c.547G>A	ENST00000317516.12:p.Asp183Asn
	ENST00000334895.10:c.547G>A	ENST00000334895.10:p.Asp183Asn
	ENST00000357980.9:c.781G>A	ENST00000357980.9:p.Asp261Asn
	ENST00000358278.7:c.655G>A	ENST00000358278.7:p.Asp219Asn
	ENST00000403994.9:c.655G>A	ENST00000403994.9:p.Asp219Asn
	ENST00000404484.9:c.547G>A	ENST00000404484.9:p.Asp183Asn
	ENST00000558910.3:c.547G>A	ENST00000558910.3:p.Asp183Asn
	ENST00000559281.6:c.547G>A	ENST00000559281.6:p.Asp183Asn
	ENST00000559397.6:c.655G>A	ENST00000559397.6:p.Asp219Asn
	ENST00000559556.5:c.655G>A	ENST00000559556.5:p.Asp219Asn
	ENST00000560615.6:c.277G>A	ENST00000560615.6:p.Asp93Asn
	ENST00000560959.5:c.547G>A	ENST00000560959.5:p.Asp183Asn
	ENST00000560970.6:c.655G>A	ENST00000560970.6:p.Asp219Asn
	ENST00000561266.6:c.655G>A	ENST00000561266.6:p.Asp219Asn
	ENST00000651577.1:c.277G>A	ENST00000651577.1:p.Asp93Asn
	ENST00000651704.1:c.277G>A	ENST00000651704.1:p.Asp93Asn
	ENST00000714013.1:c.781G>A	ENST00000714013.1:p.Asp261Asn
	ENST00000714014.1:c.655G>A	ENST00000714014.1:p.Asp219Asn
	ENST00000714017.1:c.655G>A	ENST00000714017.1:p.Asp219Asn

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
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
Conflicting interpretations of pathogenicity	2023-04-09	criteria provided, conflicting interpretations	hypertrophic cardiomyopathy	germline	Detail
Uncertain significance	2020-05-13	criteria provided, single submitter		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.655G>A (p.Asp219Asn) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) AND Cardiovascular phenotype	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: rs727503518 dbSNP
Genome: hg38
Position: chr15:63,062,230-63,062,230
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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