RGD:151235723 Rat Genome Database

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Variant: RGD:151235723 -  Homo sapiens

RGD ID: 151235723
RS ID: rs543866098
ClinVar ID: CV1318901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 6,293,096
GRCh38 4 6,291,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1417t1:c.631+2T>G
NM_001145853.1:c.631+2T>G
NM_006005.3:c.631+2T>G
LRG_1417:g.26520T>G
More...
splice donor variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:WFS1
Accession:NM_006005
Location:INTRON

Gene Symbol:WFS1
Accession:NM_001145853
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001795717 CLINVAR
dbSNP (RS) rs543866098 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 606201 CLINVAR