RGD:8606195 Rat Genome Database

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Variant: RGD:8606195 -  Homo sapiens

RGD ID: 8606195
RS ID: rs75491697
ClinVar ID: CV52542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 55,667,578
GRCh38 19 55,156,210
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.6523G>A
NC_000019.10:g.55156210C>T
NC_000019.9:g.55667578C>T
NP_000354.4:p.Ala91=
More... 		12/06/2020 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters AllHighlyPenetrant; Cardiomyopathies; CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; Familial hypertrophic cardiomyopathy 7; HYPERTROPHIC MYOCARDIOPATHY; none provided; TNNI3-Related Familial Hypertrophic Cardiomyopathy
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 A (synonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKESLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036281 CLINVAR
  RCV000233339 CLINVAR
  RCV001133536 CLINVAR
  RCV001133537 CLINVAR
  RCV001133538 CLINVAR
  RCV001133539 CLINVAR
  RCV001188353 CLINVAR
  RCV001711099 CLINVAR
  RCV002433496 CLINVAR
dbSNP (RS) rs75491697 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
  C1860752 CLINVAR
  C1861861 CLINVAR
  C2678474 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239247 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 115210 CLINVAR
  191044 CLINVAR
  611880 CLINVAR
  613690 CLINVAR
SNOMED CT 85898001 CLINVAR