chr3:52451410:G>T Detail (hg38) (TNNC1)

Information

Genome

Assembly Position
hg19 chr3:52,485,426-52,485,426 View the variant detail on this assembly version.
hg38 chr3:52,451,410-52,451,410

HGVS

Type Transcript Protein
RefSeq NM_003280.2:c.435C>A NP_003271.1:p.Asp145Glu
Ensemble ENST00000232975.8:c.435C>A ENST00000232975.8:p.Asp145Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-08-01 no assertion criteria provided hypertrophic cardiomyopathy 13 germline Detail
Uncertain significance 2015-02-20 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-12-19 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline unknown Detail
Uncertain significance 2023-12-19 criteria provided, multiple submitters, no conflicts hypertrophic cardiomyopathy 13,dilated cardiomyopathy 1Z germline unknown Detail
Likely pathogenic 2016-05-01 no assertion criteria provided dilated cardiomyopathy 1S inherited Detail
Uncertain significance 2023-07-25 criteria provided, single submitter germline Detail
Uncertain significance 2023-12-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2021-12-22 criteria provided, single submitter cardiomyopathy 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.435C>A (p.Asp145Glu) AND Hypertrophic cardiomyopathy 13 ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND not specified ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND multiple conditions ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND Dilated cardiomyopathy 1S ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND Cardiovascular phenotype ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND not provided ClinVar Detail
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) AND Cardiomyopathy 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
rs267607124 dbSNP
Genome
hg38
Position
chr3:52,451,410-52,451,410
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120586
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3219942613570397E-4
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