Mutation details:

Protein level identifier (n.a.):

p.Ala316dup

cDNA level identifier (n.a.):

c.945_947dupCGC

Gene level identifier:

g.59138_59140dupCGC

Reference, alternative allele:

C, CGCG

Genomic location hg(0)

22:38528967 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

9

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).