WDR1 (NM_017491.5) sequence variants
(AIP1, NORI-1, HEL-S-52)

Editor(s): Ariane STANDING   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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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
 2019-03-042019-03-04
exon 8
c.877C>T
p.(Leu293Phe)
L293F
PathogenicTo be validated
 2019-03-042019-03-04
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 11
c.1270G>A
p.(Val424Met)
V424M
Likely pathogenicTo be validated
 2019-03-04