RGD:28894249 Rat Genome Database

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Variant: RGD:28894249 -  Homo sapiens

RGD ID: 28894249
RS ID: rs752503819
ClinVar ID: CV904023
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 55,667,606
GRCh38 19 55,156,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.10:g.55156238G>C
NC_000019.9:g.55667606G>C
NM_000363.4:c.245C>G
NP_000354.4:p.Pro82Arg
More... 		10/30/2019 missense variant uncertain significance Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TNNI3
Accession:NM_000363
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QRLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001170621 CLINVAR
dbSNP (RS) rs752503819 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
SNOMED CT 85898001 CLINVAR