RGD:13530363 Rat Genome Database

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Variant: RGD:13530363 -  Homo sapiens

RGD ID: 13530363
RS ID: rs142923330
ClinVar ID: CV508590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 48,934,324
GRCh38 X 49,076,665
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.48934324A>G
NP_009006.2:p.Ser108=
NC_000023.11:g.49076665A>G
NM_007075.3:c.324T>C
More... 		12/12/2017 synonymous variant likely benign AllHighlyPenetrant; 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: S to S (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISAV
LIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLL
VFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPAT
LYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKN
VNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*

Gene Symbol:WDR45
Accession:NM_001029896
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVL
IWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATL
YCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNV
NSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000600671 CLINVAR
  RCV001392861 CLINVAR
dbSNP (RS) rs142923330 CLINVAR
MedGen C3550973 CLINVAR
  CN169374 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR
  300894 CLINVAR