chr3:52486233:C>A Detail (hg19) (TNNC1)

Information

Genome

Assembly Position
hg19 chr3:52,486,233-52,486,233
hg38 chr3:52,452,217-52,452,217 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003280.2:c.91G>T NP_003271.1:p.Ala31Ser
Ensemble ENST00000232975.8:c.91G>T ENST00000232975.8:p.Ala31Ser
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 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 2012-09-14 no assertion criteria provided hypertrophic cardiomyopathy 13 germline Detail
Pathogenic 2023-07-21 criteria provided, single submitter hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline Detail
Pathogenic 2023-07-21 criteria provided, single submitter hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Familial Hypertrophic, 13 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) AND Hypertrophic cardiomyopathy 13 ClinVar Detail
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) AND multiple conditions 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
rs397514616 dbSNP
Genome
hg19
Position
chr3:52,486,233-52,486,233
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser