Mutation details:

Protein level identifier (n.a.):

p.Arg649His

cDNA level identifier (n.a.):

c.1946G>A

Gene level identifier:

g.76486G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

22:38511622 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).