chr3:52488009:G>A Detail (hg19) (TNNC1)

Information

Genome

Assembly Position
hg19 chr3:52,488,009-52,488,009
hg38 chr3:52,453,993-52,453,993 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003280.2:c.23C>T NP_003271.1:p.Ala8Val
Ensemble ENST00000232975.8:c.23C>T ENST00000232975.8:p.Ala8Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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 tgv12511207 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-02-23 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 13 germline unknown Detail
Uncertain significance 2015-01-21 no assertion criteria provided not specified germline Detail
Likely pathogenic 2022-08-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-01-19 criteria provided, single submitter germline Detail
Likely pathogenic 2018-03-16 criteria provided, single submitter hypertrophic cardiomyopathy germline Detail
Pathogenic Likely pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline unknown Detail
Pathogenic Likely pathogenic 2023-12-11 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline unknown Detail
Likely pathogenic 2023-11-20 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Pathogenic 2022-06-28 criteria provided, single submitter dilated cardiomyopathy 1Z unknown 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.23C>T (p.Ala8Val) AND Hypertrophic cardiomyopathy 13 ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND not specified ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND not provided ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND Cardiovascular phenotype ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND Cardiomyopathy ClinVar Detail
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) AND Dilated cardiomyopathy 1Z 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
rs267607125 dbSNP
Genome
hg19
Position
chr3:52,488,009-52,488,009
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser