chr3:52452222:A>T Detail (hg38) (TNNC1)

Information

Genome

Assembly Position
hg19 chr3:52,486,238-52,486,238 View the variant detail on this assembly version.
hg38 chr3:52,452,222-52,452,222

HGVS

Type Transcript Protein
RefSeq NM_003280.2:c.86T>A NP_003271.1:p.Leu29Gln
Ensemble ENST00000232975.8:c.86T>A ENST00000232975.8:p.Leu29Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
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 tgv12511129 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-12-01 no assertion criteria provided hypertrophic cardiomyopathy 13 germline Detail
Uncertain significance 2015-03-11 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-11-03 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1Z,hypertrophic cardiomyopathy 13 germline Detail
Uncertain significance 2023-11-03 criteria provided, multiple submitters, no conflicts dilated cardiomyopathy 1Z,hypertrophic cardiomyopathy 13 germline Detail
Uncertain significance 2017-02-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 hypertrophic cardiomyopathy Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate thei... BeFree 18820258 Detail
0.005 Cardiomyopathies Challenging current paradigms related to cardiomyopathies. Are changes in the Ca... BeFree 18820258 Detail
0.010 hypertrophic cardiomyopathy The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic ca... BeFree 19506933 Detail
0.360 Cardiomyopathy, Familial Hypertrophic, 13 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND Hypertrophic cardiomyopathy 13 ClinVar Detail
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND not specified ClinVar Detail
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) AND not provided ClinVar Detail
Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcome... DisGeNET Detail
Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of my... DisGeNET Detail
The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does no... 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
rs267607123 dbSNP
Genome
hg38
Position
chr3:52,452,222-52,452,222
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser