RGD:38476217 Rat Genome Database

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Variant: RGD:38476217 -  Homo sapiens

RGD ID: 38476217
RS ID: rs2065029178
ClinVar ID: CV929759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,932,857
GRCh38 X 49,075,198
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.914C>T
NP_009006.2:p.Ala305Val
NC_000023.10:g.48932857G>A
NM_001029896.2:c.911C>T
More... 		05/23/2019 missense variant 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: A to V (nonsynonymous)
Amino Acid Position: 305
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISAV
LIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLL
VFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPAT
LYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPVESACICAFGRNTSKN
VNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*

Gene Symbol:WDR45
Accession:NM_001029896
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVL
IWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATL
YCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPVESACICAFGRNTSKNV
NSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001215541 CLINVAR
dbSNP (RS) rs2065029178 CLINVAR
MedGen C3550973 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR