RGD:13522735 Rat Genome Database

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Variant: RGD:13522735 -  Homo sapiens

RGD ID: 13522735
RS ID: rs782145062
ClinVar ID: CV492570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR45  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 48,933,042
GRCh38 X 49,075,383
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001029896.2:c.808C>A
NC_000023.11:g.49075383G>T
NC_000023.10:g.48933042G>T
NP_009006.2:p.Arg271Ser
More... 		05/25/2017 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:WDR45
Accession:NM_001029896
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 270
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVL
IWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLV
FPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATL
YCINFSHDSSFLCASSDKGTVHIFALKDTSLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNV
NSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*

Gene Symbol:WDR45
Accession:NM_007075
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISAV
LIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLL
VFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPAT
LYCINFSHDSSFLCASSDKGTVHIFALKDTSLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKN
VNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000592115 CLINVAR
dbSNP (RS) rs782145062 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene WDR45 CLINVAR
OMIM 300526 CLINVAR