chr15:63062263:G>A 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	chr15:63,354,462-63,354,462 View the variant detail on this assembly version.
hg38	chr15:63,062,263-63,062,263

HGVS

TPM1

Type	Transcript	Protein
RefSeq	NM_001018007.1:c.688G>A	NP_001018007.1:p.Asp230Asn
	NM_000366.5:c.688G>A	NP_000357.3:p.Asp230Asn
	NM_001330351.1:c.580G>A	NP_001317280.1:p.Asp194Asn
	NM_001018008.1:c.580G>A	NP_001018008.1:p.Asp194Asn
	NM_001018006.1:c.688G>A	NP_001018006.1:p.Asp230Asn
	NM_001018005.1:c.688G>A	NP_001018005.1:p.Asp230Asn
	NM_001301244.1:c.688G>A	NP_001288173.1:p.Asp230Asn
	NM_001301289.1:c.580G>A	NP_001288218.1:p.Asp194Asn
	NM_001330346.1:c.580G>A	NP_001317275.1:p.Asp194Asn
	NM_001018020.1:c.688G>A	NP_001018020.1:p.Asp230Asn
	NM_001018004.1:c.688G>A	NP_001018004.1:p.Asp230Asn
Ensemble	ENST00000267996.11:c.688G>A	ENST00000267996.11:p.Asp230Asn
	ENST00000288398.10:c.688G>A	ENST00000288398.10:p.Asp230Asn
	ENST00000317516.12:c.580G>A	ENST00000317516.12:p.Asp194Asn
	ENST00000334895.10:c.580G>A	ENST00000334895.10:p.Asp194Asn
	ENST00000357980.9:c.814G>A	ENST00000357980.9:p.Asp272Asn
	ENST00000358278.7:c.688G>A	ENST00000358278.7:p.Asp230Asn
	ENST00000403994.9:c.688G>A	ENST00000403994.9:p.Asp230Asn
	ENST00000404484.9:c.580G>A	ENST00000404484.9:p.Asp194Asn
	ENST00000558910.3:c.580G>A	ENST00000558910.3:p.Asp194Asn
	ENST00000559281.6:c.580G>A	ENST00000559281.6:p.Asp194Asn
	ENST00000559397.6:c.688G>A	ENST00000559397.6:p.Asp230Asn
	ENST00000559556.5:c.688G>A	ENST00000559556.5:p.Asp230Asn
	ENST00000560615.6:c.310G>A	ENST00000560615.6:p.Asp104Asn
	ENST00000560959.5:c.580G>A	ENST00000560959.5:p.Asp194Asn
	ENST00000560970.6:c.688G>A	ENST00000560970.6:p.Asp230Asn
	ENST00000561266.6:c.688G>A	ENST00000561266.6:p.Asp230Asn
	ENST00000651577.1:c.310G>A	ENST00000651577.1:p.Asp104Asn
	ENST00000651704.1:c.310G>A	ENST00000651704.1:p.Asp104Asn
	ENST00000714013.1:c.814G>A	ENST00000714013.1:p.Asp272Asn
	ENST00000714014.1:c.688G>A	ENST00000714014.1:p.Asp230Asn
	ENST00000714017.1:c.688G>A	ENST00000714017.1:p.Asp230Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
Pathogenic	2022-11-30	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2015-10-13	criteria provided, single submitter	Primary dilated cardiomyopathy	germline	Detail
Pathogenic	2023-12-23	criteria provided, single submitter	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2018-10-12	criteria provided, single submitter	hypertrophic cardiomyopathy 3,dilated cardiomyopathy 1Y	germline	Detail
Pathogenic	2018-10-12	criteria provided, single submitter	hypertrophic cardiomyopathy 3,dilated cardiomyopathy 1Y	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
<0.001	Familial dilated cardiomyopathy	However, Ca(2+) sensitivity did not change with the level of troponin I phosphor...	BeFree	23539503	Detail
0.360	Cardiomyopathy, Dilated, 1y	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND not provided	ClinVar	Detail
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND Primary dilated cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND multiple conditions	ClinVar	Detail
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) AND multiple conditions	ClinVar	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th...	DisGeNET	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: rs199476317 dbSNP
Genome: hg38
Position: chr15:63,062,263-63,062,263
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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