Mutation details:

Protein level identifier (n.a.):

p.Leu560Trpfs*5

cDNA level identifier (n.a.):

c.1674delG

Gene level identifier:

g.71274delG

Reference, alternative allele:

GC, G

Genomic location hg(0)

22:38516833 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).