RGD:11051345 Rat Genome Database

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Variant: RGD:11051345 -  Homo sapiens

RGD ID: 11051345
RS ID: rs869312661
ClinVar ID: CV225806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 48,932,794
GRCh38 X 49,075,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.11:g.49075135C>T
NC_000023.10:g.48932794C>T
NM_001029896.2:c.973+1G>A
NG_033004.2:g.31036G>A
More...
01/26/2023 splice donor variant pathogenic|likely pathogenic childhood <1 / 1 000 000 Beta-propeller protein-associated neurodegeneration; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WDR45
Accession:NM_007075
Location:INTRON

Gene Symbol:WDR45
Accession:NM_001029896
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28554332   PMID:31665836   PMID:33037762  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000209935 CLINVAR
dbSNP (RS) rs869312661 CLINVAR
MedGen C3550973 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR