All transcript variants in gene WDR45

Information The variants shown are described using the NM_007075.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ c.437_438insA p.? - - - - r.? - ins g.48934090_48934091insT - - - WDR45_000003 rs387907331 - ; clinvar; 22892189;23435086 - - LOVD
+/+ c.519G>C p.? splice_region_variant,synonymous_variant - 7/11 - r.? - subst g.48933525C>G - 3.760 - WDR45_000002 rs387907330 - ; clinvar; 23435086 - - LOVD
+/+ c.637C>T p.? stop_gained - 8/11 - r.? - subst g.48933295G>A - 3.760 - WDR45_000001 rs387907332 - ; clinvar; 23435086 - - LOVD
+/+ c.700C>T p.? stop_gained - 8/11 - r.? - subst g.48933232G>A - 0.398 - WDR45_000004 rs387907329 - ; clinvar; 23176820 - - LOVD
./. c.774_775del p.(Asp258Glufs*48) - - - - r.(?) - - g.48933078_48933079del - - - WDR45_000006 - - ; clinvar; - - - LOVD
+/+ c.1007_1008del p.? - - - - r.? - del g.48932540_48932541del - - - WDR45_000005 rs387907328 - ; clinvar; 23176820 - - LOVD
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