chr3:52485301:C>T Detail (hg19) (TNNC1)

Information

Genome

Assembly Position
hg19 chr3:52,485,301-52,485,301
hg38 chr3:52,451,285-52,451,285 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003280.2:c.476G>A NP_003271.1:p.Gly159Asp
Ensemble ENST00000232975.8:c.476G>A ENST00000232975.8:p.Gly159Asp
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
Type Database ID Link
Gene MIM 191040 OMIM
HGNC 11943 HGNC
Ensembl ENSG00000114854 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 2009-09-01 no assertion criteria provided dilated cardiomyopathy 1Z germline Detail
Likely pathogenic 2020-01-13 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Cardiomyopathy, Dilated We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to A... BeFree 17446435 Detail
0.133 Cardiomyopathy, Dilated The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anch... BeFree 18803402 Detail
0.133 Cardiomyopathy, Dilated We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to A... BeFree 17446435 Detail
0.010 hypertrophic cardiomyopathy Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate thei... BeFree 18820258 Detail
<0.001 Familial dilated cardiomyopathy However, Ca(2+) sensitivity did not change with the level of troponin I phosphor... BeFree 23539503 Detail
0.133 Cardiomyopathy, Dilated Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac tr... BeFree 17577574 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, 1z NA CLINVAR Detail
0.005 Cardiomyopathies Challenging current paradigms related to cardiomyopathies. Are changes in the Ca... BeFree 18820258 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) AND Dilated cardiomyopathy 1Z ClinVar Detail
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) AND not provided ClinVar Detail
We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) muta... DisGeNET Detail
The dilated cardiomyopathy G159D mutation in cardiac troponin C weakens the anchoring interaction wi... DisGeNET Detail
We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) muta... DisGeNET Detail
Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcome... DisGeNET Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th... DisGeNET Detail
Dilated cardiomyopathy (DCM) can be caused by a Gly159Asp mutation in cardiac troponin C (cTnC). 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
Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of my... 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
rs104893823 dbSNP
Genome
hg19
Position
chr3:52,485,301-52,485,301
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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