chr15:63042875:G>C Detail (hg38) (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	chr15:63,335,074-63,335,074 View the variant detail on this assembly version.
hg38	chr15:63,042,875-63,042,875

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.46G>C	NP_001018007.1:p.Glu16Gln
	NM_000366.5:c.46G>C	NP_000357.3:p.Glu16Gln
	NM_001018006.1:c.46G>C	NP_001018006.1:p.Glu16Gln
	NM_001018005.1:c.46G>C	NP_001018005.1:p.Glu16Gln
	NM_001301244.1:c.46G>C	NP_001288173.1:p.Glu16Gln
	NM_001018020.1:c.46G>C	NP_001018020.1:p.Glu16Gln
	NM_001018004.1:c.46G>C	NP_001018004.1:p.Glu16Gln
Ensemble	ENST00000267996.11:c.46G>C	ENST00000267996.11:p.Glu16Gln
	ENST00000288398.10:c.46G>C	ENST00000288398.10:p.Glu16Gln
	ENST00000357980.9:c.46G>C	ENST00000357980.9:p.Glu16Gln
	ENST00000358278.7:c.46G>C	ENST00000358278.7:p.Glu16Gln
	ENST00000403994.9:c.46G>C	ENST00000403994.9:p.Glu16Gln
	ENST00000559397.6:c.46G>C	ENST00000559397.6:p.Glu16Gln
	ENST00000559556.5:c.46G>C	ENST00000559556.5:p.Glu16Gln
	ENST00000560970.6:c.46G>C	ENST00000560970.6:p.Glu16Gln
	ENST00000561266.6:c.46G>C	ENST00000561266.6:p.Glu16Gln
	ENST00000610733.1:c.46G>C	ENST00000610733.1:p.Glu16Gln
	ENST00000714013.1:c.46G>C	ENST00000714013.1:p.Glu16Gln
	ENST00000714014.1:c.46G>C	ENST00000714014.1:p.Glu16Gln
	ENST00000714017.1:c.46G>C	ENST00000714017.1:p.Glu16Gln

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
Uncertain significance	2022-06-20	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Likely pathogenic	2012-11-07	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2021-06-10	criteria provided, single submitter	cardiomyopathy	germline	Detail
Uncertain significance	2021-04-15	criteria provided, single submitter	not specified	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.46G>C (p.Glu16Gln) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) AND Cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) AND not specified	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: rs727504290 dbSNP
Genome: hg38
Position: chr15:63,042,875-63,042,875
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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