Mutation details:

Protein level identifier (n.a.):

p.Gly517Argfs*29

cDNA level identifier (n.a.):

c.1547_1548dupCG

Gene level identifier:

g.68962_68963dupCG

Reference, alternative allele:

C, CCG

Genomic location hg(0)

22:38519144 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).