RGD:12884932 Rat Genome Database

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Variant: RGD:12884932 -  Homo sapiens

RGD ID: 12884932
RS ID: rs200782847
ClinVar ID: CV404443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 132,887,500
GRCh38 X 133,753,473
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_505t1:c.1032+9C>T
LRG_505:g.237167C>T
NG_009286.1:g.237167C>T
NC_000023.11:g.133753473G>A
More... 		12/04/2020 intron variant benign|likely benign childhood 1-9 / 1 000 000 Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; none provided; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome type 1; Wilms tumor, somatic
Disease Annotations     Click to see Annotation Detail View
nephroblastoma  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:GPC3
Accession:NM_004484
Location:INTRON

Gene Symbol:GPC3
Accession:NM_001164617
Location:INTRON

Gene Symbol:GPC3
Accession:NM_001164618
Location:INTRON

Gene Symbol:GPC3
Accession:XM_017029413
Location:INTRON

Gene Symbol:GPC3
Accession:NM_001164619
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000464390 CLINVAR
  RCV001702495 CLINVAR
  RCV002506152 CLINVAR
dbSNP (RS) rs200782847 CLINVAR
MedGen C3661900 CLINVAR
  CN033288 CLINVAR
NCBI Gene GPC3 CLINVAR
OMIM 194070 CLINVAR
  300037 CLINVAR
  312870 CLINVAR