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

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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 2c.19_21delAAGp.(Lys7del)PathogenicTo be validated
exon 2c.76G>Ap.(Asp26Asn)PathogenicTo be validated
exon 4c.361G>Ap.(Gly121Arg)Likely pathogenicTo be validated
exon 5c.435C>Gp.(His145Gln)PathogenicTo be validated
exon 4c.856C>Gp.(Leu286Val)Likely pathogenicTo be validated
exon 8c.877C>Tp.(Leu293Phe)PathogenicTo be validated
exon 11c.1270G>Ap.(Val424Met)Likely pathogenicTo be validated