RGD:38490076 Rat Genome Database

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Variant: RGD:38490076 -  Homo sapiens

RGD ID: 38490076
RS ID: rs782211949
ClinVar ID: CV951818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 48,934,137
GRCh38 X 49,076,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007075.4:c.391G>A
NP_009006.2:p.Asp131Asn
NM_007075.3:c.391G>A
NC_000023.10:g.48934137C>T
More... 		01/28/2020 missense variant likely benign|uncertain significance 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:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 131
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISAV
LIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPNNPRKLFEFDTRDNPKGLCDLCPSLEKQLL
VFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPAT
LYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKN
VNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*

Gene Symbol:WDR45
Accession:NM_001029896
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVL
IWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPNNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATL
YCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNV
NSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001238685 CLINVAR
dbSNP (RS) rs782211949 CLINVAR
MedGen C3550973 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR