RGD:8571233 Rat Genome Database

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Variant: RGD:8571233 -  Homo sapiens

RGD ID: 8571233
RS ID: rs387907332
ClinVar ID: CV51084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,933,295
GRCh38 X 49,075,636
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.49075636G>A
NC_000023.10:g.48933295G>A
NP_009006.2:p.Gln213*
NP_009006.2:p.Gln213Ter
More... 		04/16/2013 2kb upstream variant|nonsense 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_001029896
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVL
IWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASAS*KGTLIRLFDTQSKEKLVELRRGTDPATL
YCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNV
NSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*

Gene Symbol:WDR45
Accession:NM_007075
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISAV
LIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLL
VFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASAS*KGTLIRLFDTQSKEKLVELRRGTDPAT
LYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKN
VNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*
Variant Samples
Additional References at PubMed
PMID:23435086  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000034832 CLINVAR
dbSNP (RS) rs387907332 CLINVAR
MedGen C3550973 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR
OMIM Allele 300526.0005 CLINVAR