Annotation Detail

Information
Associated Genes
TNNI3
Associated Variants
TNNI3 p.Arg170Gly (p.R170G) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Arg170Gly (p.R170G) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) AND not specified
ClinVar Allele ID
176215
ClinVar RefSeq Alternation Syntax
NM_000363.5:c.508C>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2013-05-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000152077
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs