RGD:11551578 Rat Genome Database

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Variant: RGD:11551578 -  Homo sapiens

RGD ID: 11551578
RS ID: rs200720341
ClinVar ID: CV259051
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 55,667,978
GRCh38 19 55,156,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_432t1:c.143A>C
LRG_432:g.6123A>C
NG_007866.2:g.6123A>C
NC_000019.10:g.55156610T>G
More... 		03/05/2019 missense variant uncertain significance Cardiomyopathies; CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE; HYPERTROPHIC MYOCARDIOPATHY; none provided
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: Q to P (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLPLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000253227 CLINVAR
  RCV000656735 CLINVAR
  RCV001051959 CLINVAR
  RCV001798763 CLINVAR
  RCV002253343 CLINVAR
dbSNP (RS) rs200720341 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
  C2678474 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
  611880 CLINVAR
SNOMED CT 85898001 CLINVAR