Mutation details:

cDNA level identifier (n.a.):

c.610-1G>T

Gene level identifier:

g.51931G>T

Archive identifier/Other designation:

IVS4-1G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

22:38536177 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).