Mutation details:

Protein level identifier (n.a.):

p.Asp283Asn

cDNA level identifier (n.a.):

c.847G>A

Gene level identifier:

g.57066G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

22:38531042 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 1 heterozygous (2 in total).