Mutation details:

Protein level identifier (n.a.):

p.Phe72Leu

cDNA level identifier (n.a.):

c.216C>A

Gene level identifier:

g.46454C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

22:38541654 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).