RGD:156366601 Rat Genome Database

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Variant: RGD:156366601 -  Homo sapiens

RGD ID: 156366601
ClinVar ID: CV1906496
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 6,630,392
GRCh38 11 6,609,161
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006284.4:c.*1761G>C
NM_001278442.2:c.216+5C>G
NM_001278441.2:c.436-138C>G
NM_001014794.3:c.618+5C>G
More... 		01/15/2024 3 prime utr variant uncertain significance Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1906496Humanfamilial hypertrophic cardiomyopathy  IAGP 8554872ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyClinVarPMID:17576681|PMID:28492532|PMID:9536098
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:9536098   PMID:17576681   PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003092105 CLINVAR
MedGen C0949658 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR