Mutation details:

Protein level identifier (n.a.):

p.Thr661Met

cDNA level identifier (n.a.):

c.1982C>T

Gene level identifier:

g.76522C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38511586 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).