WDR1 (NM_017491.3) sequence variants
(AIP1, NORI-1, HEL-S-52)

Editor(s): Ariane STANDING   

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Total current number of sequence variants for WDR1 : 7

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.19_21delAAG
p.(Lys7del)
K7del
PathogenicTo be validated
 2019-03-04
exon 2
c.76G>A
p.(Asp26Asn)
D26N
PathogenicTo be validated
 2019-03-04
exon 4
c.361G>A
p.(Gly121Arg)
G121R
Likely pathogenicTo be validated
 2019-03-04
exon 5
c.435C>G
p.(His145Gln)
H145Q
PathogenicTo be validated
 2019-03-04
exon 4
c.856C>G
p.(Leu286Val)
L286V
Likely pathogenicTo be validated
 2019-03-04
exon 8
c.877C>T
p.(Leu293Phe)
L293F
PathogenicTo be validated
 2019-03-04
exon 11
c.1270G>A
p.(Val424Met)
V424M
Likely pathogenicTo be validated
 2019-03-04