RGD:8606201 Rat Genome Database

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Variant: RGD:8606201 -  Homo sapiens

RGD ID: 8606201
RS ID: rs2288530
ClinVar ID: CV52548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 55,665,578
GRCh38 19 55,154,210
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.8523C>G
NC_000019.10:g.55154210G>C
NC_000019.9:g.55665578G>C
c.373-4C>G
More... 		06/30/2022 intron|intron variant benign|likely benign|uncertain significance 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:INTRON

Variant Samples
Additional References at PubMed
PMID:9241277   PMID:24503780   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000036287 CLINVAR
  RCV000537053 CLINVAR
  RCV001129872 CLINVAR
  RCV001129873 CLINVAR
  RCV001134901 CLINVAR
  RCV001134902 CLINVAR
  RCV001178608 CLINVAR
  RCV001465278 CLINVAR
  RCV002345286 CLINVAR
dbSNP (RS) rs2288530 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