chr15:63335051:T>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	chr15:63,335,051-63,335,051
hg38	chr15:63,042,852-63,042,852 View the variant detail on this assembly version.

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.23T>G	NP_001018007.1:p.Met8Arg
	NM_001018004.1:c.23T>G	NP_001018004.1:p.Met8Arg
	NM_001018006.1:c.23T>G	NP_001018006.1:p.Met8Arg
	NM_001018005.1:c.23T>G	NP_001018005.1:p.Met8Arg
	NM_001301244.1:c.23T>G	NP_001288173.1:p.Met8Arg
	NM_000366.5:c.23T>G	NP_000357.3:p.Met8Arg
	NM_001018020.1:c.23T>G	NP_001018020.1:p.Met8Arg
Ensemble	ENST00000560970.6:c.23T>G	ENST00000560970.6:p.Met8Arg
	ENST00000714017.1:c.23T>G	ENST00000714017.1:p.Met8Arg
	ENST00000267996.11:c.23T>G	ENST00000267996.11:p.Met8Arg
	ENST00000559556.5:c.23T>G	ENST00000559556.5:p.Met8Arg
	ENST00000358278.7:c.23T>G	ENST00000358278.7:p.Met8Arg
	ENST00000561266.6:c.23T>G	ENST00000561266.6:p.Met8Arg
	ENST00000403994.9:c.23T>G	ENST00000403994.9:p.Met8Arg
	ENST00000288398.10:c.23T>G	ENST00000288398.10:p.Met8Arg
	ENST00000610733.1:c.23T>G	ENST00000610733.1:p.Met8Arg
	ENST00000357980.9:c.23T>G	ENST00000357980.9:p.Met8Arg
	ENST00000714014.1:c.23T>G	ENST00000714014.1:p.Met8Arg
	ENST00000559397.6:c.23T>G	ENST00000559397.6:p.Met8Arg
	ENST00000714013.1:c.23T>G	ENST00000714013.1:p.Met8Arg

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	2008-03-01	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
0.007	Myopathies, Nemaline	We have examined endurance exercise as a means of improving recovery following m...	BeFree	15367485	Detail
<0.001	Nemaline Myopathy, Autosomal Dominant	We have previously reported a Met9Arg mutation in the human skeletal muscle alph...	BeFree	12163017	Detail
<0.001	Nemaline Myopathy, Autosomal Dominant	We have previously reported a Met9Arg mutation in the human skeletal muscle alph...	BeFree	12163017	Detail
0.007	Myopathies, Nemaline	Expression and biological activity of Baculovirus generated wild-type human slow...	BeFree	12163017	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) AND Primary dilated cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
We have examined endurance exercise as a means of improving recovery following muscle inactivity in ...	DisGeNET	Detail
We have previously reported a Met9Arg mutation in the human skeletal muscle alpha tropomyosin gene (...	DisGeNET	Detail
We have previously reported a Met9Arg mutation in the human skeletal muscle alpha tropomyosin gene (...	DisGeNET	Detail
Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin a...	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: rs397516364 dbSNP
Genome: hg19
Position: chr15:63,335,051-63,335,051
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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