chr19:55668953:G>A Detail (hg19) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,668,953-55,668,953
hg38 chr19:55,157,585-55,157,585 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.5C>T NP_000354.4:p.Ala2Val
Ensemble ENST00000344887.10:c.5C>T ENST00000344887.10:p.Ala2Val
ENST00000665070.1:c.5C>T ENST00000665070.1:p.Ala2Val
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 191044 OMIM
HGNC 11947 HGNC
Ensembl ENSG00000129991 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 2009-08-14 no assertion criteria provided dilated cardiomyopathy 2A germline Detail
Uncertain significance 2019-06-28 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-06-08 criteria provided, multiple submitters, no conflicts cardiomyopathy germline Detail
Uncertain significance 2021-07-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2024-01-22 criteria provided, conflicting interpretations hypertrophic cardiomyopathy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Cardiomyopathy, Dilated, 1FF NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Dilated cardiomyopathy 2A ClinVar Detail
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND not specified ClinVar Detail
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Cardiomyopathy ClinVar Detail
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND not provided ClinVar Detail
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Hypertrophic 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
rs397516359 dbSNP
Genome
hg19
Position
chr19:55,668,953-55,668,953
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8620
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)
120314
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.324633874694549E-5
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