chr15:63354462:G>A Detail (hg19) (TPM1)

Information

Genome

Assembly Position
hg19 chr15:63,354,462-63,354,462
hg38 chr15:63,062,263-63,062,263 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001018020.1:c.688G>A NP_001018020.1:p.Asp230Asn
NM_000366.5:c.688G>A NP_000357.3:p.Asp230Asn
NM_001018005.1:c.688G>A NP_001018005.1: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
Show details
Links
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

DescrptionSourceLinks
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
hg19
Position
chr15:63,354,462-63,354,462
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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