chr15:63059611:G>C 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	chr15:63,351,810-63,351,810 View the variant detail on this assembly version.
hg38	chr15:63,059,611-63,059,611

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.423G>C	NP_001018007.1:p.Met141Ile
	NM_000366.5:c.423G>C	NP_000357.3:p.Met141Ile
	NM_001330351.1:c.315G>C	NP_001317280.1:p.Met105Ile
	NM_001018008.1:c.315G>C	NP_001018008.1:p.Met105Ile
	NM_001018006.1:c.423G>C	NP_001018006.1:p.Met141Ile
	NM_001018005.1:c.423G>C	NP_001018005.1:p.Met141Ile
	NM_001301244.1:c.423G>C	NP_001288173.1:p.Met141Ile
	NM_001301289.1:c.315G>C	NP_001288218.1:p.Met105Ile
	NM_001330346.1:c.315G>C	NP_001317275.1:p.Met105Ile
	NM_001018020.1:c.423G>C	NP_001018020.1:p.Met141Ile
	NM_001018004.1:c.423G>C	NP_001018004.1:p.Met141Ile
Ensemble	ENST00000267996.11:c.423G>C	ENST00000267996.11:p.Met141Ile
	ENST00000288398.10:c.423G>C	ENST00000288398.10:p.Met141Ile
	ENST00000317516.12:c.315G>C	ENST00000317516.12:p.Met105Ile
	ENST00000334895.10:c.315G>C	ENST00000334895.10:p.Met105Ile
	ENST00000357980.9:c.549G>C	ENST00000357980.9:p.Met183Ile
	ENST00000358278.7:c.423G>C	ENST00000358278.7:p.Met141Ile
	ENST00000403994.9:c.423G>C	ENST00000403994.9:p.Met141Ile
	ENST00000404484.9:c.315G>C	ENST00000404484.9:p.Met105Ile
	ENST00000558910.3:c.315G>C	ENST00000558910.3:p.Met105Ile
	ENST00000559281.6:c.315G>C	ENST00000559281.6:p.Met105Ile
	ENST00000559397.6:c.423G>C	ENST00000559397.6:p.Met141Ile
	ENST00000559556.5:c.423G>C	ENST00000559556.5:p.Met141Ile
	ENST00000560615.6:c.45G>C	ENST00000560615.6:p.Met15Ile
	ENST00000560959.5:c.315G>C	ENST00000560959.5:p.Met105Ile
	ENST00000560970.6:c.423G>C	ENST00000560970.6:p.Met141Ile
	ENST00000561266.6:c.423G>C	ENST00000561266.6:p.Met141Ile
	ENST00000651577.1:c.45G>C	ENST00000651577.1:p.Met15Ile
	ENST00000651704.1:c.45G>C	ENST00000651704.1:p.Met15Ile
	ENST00000714013.1:c.549G>C	ENST00000714013.1:p.Met183Ile
	ENST00000714014.1:c.423G>C	ENST00000714014.1:p.Met141Ile
	ENST00000714017.1:c.423G>C	ENST00000714017.1:p.Met141Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2012-01-06	criteria provided, single submitter	Primary dilated 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.423G>C (p.Met141Ile) AND Primary dilated 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: rs397516371 dbSNP
Genome: hg38
Position: chr15:63,059,611-63,059,611
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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