RGD:14697928 Rat Genome Database

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Variant: RGD:14697928 -  Homo sapiens

RGD ID: 14697928
RS ID: rs1172253757
ClinVar ID: CV623270
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XDH  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 31,564,261
GRCh38 2 31,341,395
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.78351G>C
NM_000379.4:c.3520-1G>C
NC_000002.12:g.31341395C>G
NC_000002.11:g.31564261C>G
 11/23/2018 splice acceptor variant pathogenic XDH deficiency
Disease Annotations     Click to see Annotation Detail View
xanthinuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:XDH
Accession:NM_000379
Location:INTRON

Gene Symbol:XDH
Accession:XM_011533096
Location:INTRON

Gene Symbol:XDH
Accession:XM_011533095
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000786985 CLINVAR
dbSNP (RS) rs1172253757 CLINVAR
MedGen C0268118 CLINVAR
NCBI Gene XDH CLINVAR
OMIM 278300 CLINVAR
  607633 CLINVAR
SNOMED CT 836343001 CLINVAR