RGD:26899660 Rat Genome Database

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Variant: RGD:26899660 -  Homo sapiens

RGD ID: 26899660
RS ID: rs1555864366
ClinVar ID: CV848087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127892258  TNNI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,668,447
GRCh38 19 55,157,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000354.4:p.Arg27Cys
LRG_432t1:c.79C>T
NM_000363.5:c.79C>T
LRG_432:g.5654C>T
More... 		02/25/2019 missense variant likely pathogenic|uncertain significance CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Cardiomyopathy, Familial Idiopathic; Dilated cardiomyopathy with conduction defect; Familial dilated cardiomyopathy with conduction defect due to LMNA mutation; HYPERTROPHIC MYOCARDIOPATHY; Idiopathic dilated cardiomyopathy
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:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYCAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001036946 CLINVAR
  RCV002259377 CLINVAR
  RCV002416335 CLINVAR
dbSNP (RS) rs1555864366 CLINVAR
MedGen C0007194 CLINVAR
  C1449563 CLINVAR
  CN230736 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 115200 CLINVAR
  191044 CLINVAR