RGD:13508731 Rat Genome Database

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Variant: RGD:13508731 -  Homo sapiens

RGD ID: 13508731
RS ID: rs1555863017
ClinVar ID: CV485939
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,663,286
GRCh38 19 55,151,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.55663286C>T
LRG_432:g.10815G>A
NG_007866.2:g.10815G>A
LRG_679:g.2321G>A
More... 		03/16/2017 splice acceptor variant uncertain significance HYPERTROPHIC MYOCARDIOPATHY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TNNI3
Accession:NM_000363
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28408708  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000584759 CLINVAR
dbSNP (RS) rs1555863017 CLINVAR
MedGen C0007194 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR