Mutation details:

Protein level identifier (n.a.):

p.Arg37*

cDNA level identifier (n.a.):

c.109C>T

Gene level identifier:

g.22783C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38565325 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).