Mutation details:

cDNA level identifier (n.a.):

c.1078-3C>A

Gene level identifier:

g.62536C>A

Archive identifier/Other designation:

IVS7-3C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

22:38525572 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

16

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).