ALPK1 (NM_025144.4) sequence variants
(Lak, FLJ22670, KIAA1527)

Editor(s): Eugenio SANGIORGI   

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Total current number of sequence variants for ALPK1 : 3

*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 9
c.710C>T
p.(T237M)
c.710C>T
PathogenicTo be validated
 2021-02-01
exon 11
c.1024G>C
p.(D342H)
c.1024G>C
Uncertain significance (VUS)To be validated
 2021-02-01
exon 11
c.2770T>C
p.(S924P)
c.2770T>C
Uncertain significance (VUS)To be validated
 2021-02-01