Mutation details:

Protein level identifier (n.a.):

p.Val691del

cDNA level identifier (n.a.):

c.2070_2072delTGT

Gene level identifier:

g.78482_78484delTGT

Reference, alternative allele:

GACA, G

Genomic location hg(0)

22:38509623 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

in frame indel

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).