RGD:13503701 Rat Genome Database

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Variant: RGD:13503701 -  Homo sapiens

RGD ID: 13503701
RS ID: rs201422579
ClinVar ID: CV469288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 55,667,644
GRCh38 19 55,156,276
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.55156276G>C
LRG_432t1:c.207C>G
LRG_432:g.6457C>G
NG_007866.2:g.6457C>G
More... 		08/27/2020 synonymous variant benign|likely benign Cardiomyopathies; 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: R to R (synonymous)
Amino Acid Position: 69
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 RCV000558721 CLINVAR
  RCV001180828 CLINVAR
  RCV001712485 CLINVAR
  RCV002420341 CLINVAR
dbSNP (RS) rs201422579 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
SNOMED CT 85898001 CLINVAR