Mutation details:

Protein level identifier (n.a.):

p.His479Asp

cDNA level identifier (n.a.):

c.1435C>G

Gene level identifier:

g.68850C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

22:38519258 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).