RGD:34896297 Rat Genome Database

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Variant: RGD:34896297 -  Homo sapiens

RGD ID: 34896297
RS ID: rs727503504
ClinVar ID: CV914871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,665,439
GRCh38 19 55,154,071
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.Arg170=
NG_011829.2:g.168C>A
NG_007866.2:g.8662C>A
NC_000019.9:g.55665439G>T
More... 		12/23/2019 synonymous variant likely benign 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: R to R (synonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001185685 CLINVAR
dbSNP (RS) rs727503504 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
SNOMED CT 85898001 CLINVAR