RGD:11549854 Rat Genome Database

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Variant: RGD:11549854 -  Homo sapiens

RGD ID: 11549854
RS ID: rs371396859
ClinVar ID: CV257756
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPC3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 133,087,278
GRCh38 X 133,953,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_505t1:c.176-40G>C
LRG_505:g.37389G>C
NG_009286.1:g.37389G>C
NC_000023.11:g.133953251C>G
More... 		intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GPC3
Accession:NM_001164617
Location:INTRON

Gene Symbol:GPC3
Accession:NM_001164619
Location:INTRON

Gene Symbol:GPC3
Accession:NM_001164618
Location:INTRON

Gene Symbol:GPC3
Accession:NM_004484
Location:INTRON

Gene Symbol:GPC3
Accession:XM_017029413
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000250954 CLINVAR
dbSNP (RS) rs371396859 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GPC3 CLINVAR
OMIM 300037 CLINVAR