Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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