RGD:9586884 Rat Genome Database

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Variant: RGD:9586884 -  Homo sapiens

RGD ID: 9586884
RS ID: rs397516343
ClinVar ID: CV165592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,667,605
GRCh38 19 55,156,237
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007866.2:g.6496G>A
NC_000019.10:g.55156237C>T
NC_000019.9:g.55667605C>T
NP_000354.4:p.Pro82=
More... 		08/31/2017 synonymous variant likely pathogenic|likely benign 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:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000892311 CLINVAR
dbSNP (RS) rs397516343 CLINVAR
MedGen C0007194 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR