Mutation details:

Protein level identifier (n.a.):

p.Val376Trpfs*14

cDNA level identifier (n.a.):

c.1125delA

Gene level identifier:

g.62586delA

Reference, alternative allele:

CT, C

Genomic location hg(0)

22:38525521 (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:

1 homozygous (1 in total).