Mutation details:

Protein level identifier (n.a.):

p.Ser637Argfs*29

cDNA level identifier (n.a.):

c.1911delC

Gene level identifier:

g.76451delC

Reference, alternative allele:

CG, C

Genomic location hg(0)

22:38511656 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).