RGD:11589193 Rat Genome Database

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Variant: RGD:11589193 -  Homo sapiens

RGD ID: 11589193
RS ID: rs370085305
ClinVar ID: CV289097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XDH  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 31,571,233
GRCh38 2 31,348,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.31348367G>A
NC_000002.11:g.31571233G>A
NM_000379.3:c.3052-4C>T
NM_000379.4:c.3052-4C>T
More... 		10/30/2018 intron variant likely benign|uncertain significance none provided; Xanthine dehydrogenase and aldehyde oxidase combined deficiency of; Xanthinuria type 2; XDH and AOX dual deficiency; XDH deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:XDH
Accession:XM_011533096
Location:INTRON

Gene Symbol:XDH
Accession:NM_000379
Location:INTRON

Gene Symbol:XDH
Accession:XM_011533095
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000309015 CLINVAR
  RCV000902914 CLINVAR
  RCV001729547 CLINVAR
dbSNP (RS) rs370085305 CLINVAR
MedGen C0268118 CLINVAR
  C1863688 CLINVAR
  C3661900 CLINVAR
NCBI Gene XDH CLINVAR
OMIM 278300 CLINVAR
  603592 CLINVAR
  607633 CLINVAR
SNOMED CT 836343001 CLINVAR