i5002771

Gene (via rs)

Gene

Chromosome

1

Position

21890681

iGeno	Mag	Summary
(A;A)	0	normal
(A;C)	3	carrier of a hypophosphatasia allele
(A;G)	3	carrier of a hypophosphatasia allele
(C;C)	4	hypophosphatasia
(G;G)	4	hypophosphatasia

alias

Rs_StabilizedOrientation

plus

RsGeno	Mag	Summary
(A;A)	0	normal
(A;C)	3	carrier of a hypophosphatasia allele
(C;C)	4	hypophosphatasia

i5002771, also known as c.620A>C or p.Q207P, is a SNP in the ALPL gene on chromosome 1. Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.