RGD:8599027 Rat Genome Database

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Variant: RGD:8599027 -  Homo sapiens

RGD ID: 8599027
RS ID: rs121917761
ClinVar ID: CV27468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,665,436
GRCh38 19 55,154,068
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007866.2:g.8665G>A
NC_000019.10:g.55154068C>T
NC_000019.9:g.55665436C>T
NP_000354.4:p.Ala171Thr
More... 		11/21/2018 missense|missense variant pathogenic|uncertain significance all ages|variable 1-9 / 100 000 AllHighlyPenetrant; 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: A to T (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRTHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:12531876   PMID:15961398   PMID:16288990   PMID:18423659   PMID:27532257   PMID:28492532   PMID:30384889   PMID:33429969  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013242 CLINVAR
  RCV000817897 CLINVAR
  RCV001804728 CLINVAR
dbSNP (RS) rs121917761 CLINVAR
MedGen C0007194 CLINVAR
  C1861861 CLINVAR
  CN169374 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 115210 CLINVAR
  191044 CLINVAR
OMIM Allele 191044.0011 CLINVAR