chr19:55151898:T>C Detail (hg38) (TNNI3)

Information

Genome

Assembly Position
hg19 chr19:55,663,266-55,663,266 View the variant detail on this assembly version.
hg38 chr19:55,151,898-55,151,898

HGVS

Type Transcript Protein
RefSeq NM_000363.4:c.569A>G NP_000354.4:p.Asp190Gly
Ensemble ENST00000344887.10:c.569A>G ENST00000344887.10:p.Asp190Gly
ENST00000588882.1:c.494A>G ENST00000588882.1:p.Asp165Gly
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 2003-01-01 no assertion criteria provided hypertrophic cardiomyopathy 7 germline Detail
Pathogenic 2003-01-01 no assertion criteria provided Cardiomyopathy, familial restrictive, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.362 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) AND Hypertrophic cardiomyopathy 7 ClinVar Detail
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) AND Cardiomyopathy, familial restrictive, 1 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
rs104894728 dbSNP
Genome
hg38
Position
chr19:55,151,898-55,151,898
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser