Mutation details:

Protein level identifier (n.a.):

p.Leu451Tyrfs*20

cDNA level identifier (n.a.):

c.1351delC

Gene level identifier:

g.65654delC

Reference, alternative allele:

AG, A

Genomic location hg(0)

22:38522453 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).