chr15:63351803:A>T Detail (hg19) (TPM1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr15:63,351,803-63,351,803
hg38	chr15:63,059,604-63,059,604 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018006.1:c.416A>T	NP_001018006.1:p.Glu139Val
	NM_001018004.1:c.416A>T	NP_001018004.1:p.Glu139Val
	NM_001330351.1:c.308A>T	NP_001317280.1:p.Glu103Val
	NM_001018007.1:c.416A>T	NP_001018007.1:p.Glu139Val
	NM_001018008.1:c.308A>T	NP_001018008.1:p.Glu103Val
	NM_001018020.1:c.416A>T	NP_001018020.1:p.Glu139Val
	NM_001330346.1:c.308A>T	NP_001317275.1:p.Glu103Val
	NM_001301289.1:c.308A>T	NP_001288218.1:p.Glu103Val
	NM_000366.5:c.416A>T	NP_000357.3:p.Glu139Val
	NM_001018005.1:c.416A>T	NP_001018005.1:p.Glu139Val
	NM_001301244.1:c.416A>T	NP_001288173.1:p.Glu139Val
Ensemble	ENST00000358278.7:c.416A>T	ENST00000358278.7:p.Glu139Val
	ENST00000561266.6:c.416A>T	ENST00000561266.6:p.Glu139Val
	ENST00000559556.5:c.416A>T	ENST00000559556.5:p.Glu139Val
	ENST00000560959.5:c.308A>T	ENST00000560959.5:p.Glu103Val
	ENST00000317516.12:c.308A>T	ENST00000317516.12:p.Glu103Val
	ENST00000714017.1:c.416A>T	ENST00000714017.1:p.Glu139Val
	ENST00000267996.11:c.416A>T	ENST00000267996.11:p.Glu139Val
	ENST00000334895.10:c.308A>T	ENST00000334895.10:p.Glu103Val
	ENST00000558910.3:c.308A>T	ENST00000558910.3:p.Glu103Val
	ENST00000560970.6:c.416A>T	ENST00000560970.6:p.Glu139Val
	ENST00000651577.1:c.38A>T	ENST00000651577.1:p.Glu13Val
	ENST00000714013.1:c.542A>T	ENST00000714013.1:p.Glu181Val
	ENST00000357980.9:c.542A>T	ENST00000357980.9:p.Glu181Val
	ENST00000559397.6:c.416A>T	ENST00000559397.6:p.Glu139Val
	ENST00000714014.1:c.416A>T	ENST00000714014.1:p.Glu139Val
	ENST00000559281.6:c.308A>T	ENST00000559281.6:p.Glu103Val
	ENST00000404484.9:c.308A>T	ENST00000404484.9:p.Glu103Val
	ENST00000288398.10:c.416A>T	ENST00000288398.10:p.Glu139Val
	ENST00000403994.9:c.416A>T	ENST00000403994.9:p.Glu139Val
	ENST00000560615.6:c.38A>T	ENST00000560615.6:p.Glu13Val
	ENST00000651704.1:c.38A>T	ENST00000651704.1:p.Glu13Val

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	2013-01-23	no assertion criteria provided	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.416A>T (p.Glu139Val) 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: rs727504389 dbSNP
Genome: hg19
Position: chr15:63,351,803-63,351,803
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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