Mutation details:

Protein level identifier (n.a.):

p.Lys509Glnfs*5

cDNA level identifier (n.a.):

c.1524dupC

Gene level identifier:

g.68939dupC

Reference, alternative allele:

T, TG

Genomic location hg(0)

22:38519168 (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:

1 compound heterozygous (1 in total).