rs769283883 Rat Genome Database

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Variant: rs769283883 -  Homo sapiens

RGD ID: 14742975
RS ID: rs769283883
ClinVar ID: CV665115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 6,631,369
GRCh38 11 6,610,138
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006284.4:c.*784T>G
NM_001014794.3:c.1079-10A>C
NM_001014795.3:c.1079-10A>C
NM_004517.4:c.1079-10A>C
More... 		02/16/2023 3 prime utr variant benign|likely benign AllHighlyPenetrant; Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; ILK-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV665115Humanfamilial hypertrophic cardiomyopathy  IAGP 8554872ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyClinVarPMID:28492532
CV665115Humanhypertrophic cardiomyopathy 1  IAGP 8554872ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosisClinVarPMID:28492532
Gene Symbol:TAF10
Accession:NM_006284
Location:3UTRS;EXON

Gene Symbol:ILK
Accession:NM_004517
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014794
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014795
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278441
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278442
Location:INTRON

Gene Symbol:ILK
Accession:XM_005252904
Location:INTRON

Gene Symbol:ILK
Accession:XM_011520065
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448499
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448498
Location:INTRON

Gene Symbol:ILK
Accession:XM_047426885
Location:INTRON

.
PMID:28492532  



1 to 14 of 14 rows
Database
Acc Id
Source(s)
ClinVar RCV000841749 CLINVAR
  RCV001451940 CLINVAR
  RCV001727804 CLINVAR
  RCV003918307 CLINVAR
dbSNP (RS) rs769283883 CLINVAR
MedGen C0949658 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR
1 to 14 of 14 rows