chr19:55157052:T>G Detail (hg38) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,668,420-55,668,420 View the variant detail on this assembly version.
hg38 chr19:55,157,052-55,157,052

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.106A>C NP_000354.4:p.Lys36Gln
Ensemble ENST00000344887.10:c.106A>C ENST00000344887.10:p.Lys36Gln
ENST00000665070.1:c.106A>C ENST00000665070.1:p.Lys36Gln
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 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 1FF germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Familial dilated cardiomyopathy However, Ca(2+) sensitivity did not change with the level of troponin I phosphor... BeFree 23539503 Detail
<0.001 Familial dilated cardiomyopathy However, Ca(2+) sensitivity did not change with the level of troponin I phosphor... BeFree 23539503 Detail
<0.001 Familial dilated cardiomyopathy However, Ca(2+) sensitivity did not change with the level of troponin I phosphor... BeFree 23539503 Detail
0.003 Cardiomyopathy, Familial Idiopathic We report 2 novel TNNI3 missense mutations, Lys36Gln and Asn185Lys, each associa... BeFree 19590045 Detail
0.360 Cardiomyopathy, Dilated, 1FF NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln) AND Dilated cardiomyopathy 1FF ClinVar Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th... DisGeNET Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th... DisGeNET Detail
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of th... DisGeNET Detail
We report 2 novel TNNI3 missense mutations, Lys36Gln and Asn185Lys, each associated with severe and ... 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
rs267607130 dbSNP
Genome
hg38
Position
chr19:55,157,052-55,157,052
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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