RGD:10406790 Rat Genome Database

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Variant: RGD:10406790 -  Homo sapiens

RGD ID: 10406790
RS ID: rs797046102
ClinVar ID: CV209076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,933,524
GRCh38 X 49,075,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.49075865C>A
NC_000023.10:g.48933524C>A
NM_001029896.2:c.516+1G>T
NM_007075.3:c.519+1G>T
More... 		07/16/2015 splice donor variant pathogenic 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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194153 CLINVAR
dbSNP (RS) rs797046102 CLINVAR
MedGen C3550973 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR