RGD:34897204 Rat Genome Database

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Variant: RGD:34897204 -  Homo sapiens

RGD ID: 34897204
RS ID: rs764527627
ClinVar ID: CV914870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,665,431
GRCh38 19 55,154,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_432t1:c.516C>T
NM_000363.5:c.516C>T
LRG_432:g.8670C>T
NG_011829.2:g.176C>T
More... 		06/13/2019 synonymous variant likely benign Cardiomyopathies; 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: H to H (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001186276 CLINVAR
  RCV001477086 CLINVAR
dbSNP (RS) rs764527627 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
SNOMED CT 85898001 CLINVAR