RGD:15145794 Rat Genome Database

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Variant: RGD:15145794 -  Homo sapiens

RGD ID: 15145794
RS ID: rs372657109
ClinVar ID: CV690009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 6,629,915
GRCh38 11 6,608,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029702.1:g.9952T>G
NM_001278441.2:c.351+196T>G
NM_001014794.3:c.352-9T>G
NC_000011.9:g.6629915T>G
More... 		07/13/2022 3 prime utr variant likely benign Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
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:XM_047426885
Location:5UTRS;INTRON

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

Gene Symbol:ILK
Accession:XM_005252904
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014794
Location:INTRON

Gene Symbol:ILK
Accession:XM_011520065
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278441
Location:INTRON

Gene Symbol:ILK
Accession:NM_004517
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448498
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448499
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014795
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000866152 CLINVAR
dbSNP (RS) rs372657109 CLINVAR
MedGen C0949658 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR