RGD:12843771 Rat Genome Database

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Variant: RGD:12843771 -  Homo sapiens

RGD ID: 12843771
RS ID: rs371539613
ClinVar ID: CV372288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,629,445
GRCh38 11 6,608,215
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_444:g.9482C>T
NG_029702.1:g.9482C>T
NC_000011.10:g.6608215C>T
NC_000011.9:g.6629445C>T
More... 		07/19/2021 3 prime utr variant|intron variant likely benign|uncertain significance Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TAF10
Accession:NM_006284
Location:3UTRS;EXON

Gene Symbol:ILK
Accession:NM_001278442
Location:5UTRS;INTRON

Gene Symbol:ILK
Accession:XM_047426885
Location:5UTRS;INTRON

Gene Symbol:ILK
Accession:NM_001014795
Location:INTRON

Gene Symbol:ILK
Accession:XM_005252904
Location:INTRON

Gene Symbol:ILK
Accession:XM_011520065
Location:INTRON

Gene Symbol:ILK
Accession:NM_004517
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014794
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278441
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448499
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448498
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000476681 CLINVAR
  RCV001721370 CLINVAR
dbSNP (RS) rs371539613 CLINVAR
MedGen C0949658 CLINVAR
  C3661900 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR