RGD:28885589 Rat Genome Database

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Variant: RGD:28885589 -  Homo sapiens

RGD ID: 28885589
RS ID: rs563597138
ClinVar ID: CV884717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XDH  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 31,558,196
GRCh38 2 31,335,330
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008871.2:g.84416A>G
NM_000379.4:c.*628A>G
NG_008871.1:g.84416A>G
NM_000379.3:c.*628A>G
More... 		01/12/2018 3 prime utr variant uncertain significance XDH deficiency
Disease Annotations     Click to see Annotation Detail View
xanthinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:XDH
Accession:XM_011533095
Location:3UTRS;EXON

Gene Symbol:XDH
Accession:NM_000379
Location:3UTRS;EXON

Gene Symbol:XDH
Accession:XM_011533096
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001137554 CLINVAR
dbSNP (RS) rs563597138 CLINVAR
MedGen C0268118 CLINVAR
NCBI Gene XDH CLINVAR
OMIM 278300 CLINVAR
  607633 CLINVAR
SNOMED CT 836343001 CLINVAR