Mutation details:

Protein level identifier (n.a.):

p.Ala244_Asn247del

cDNA level identifier (n.a.):

c.729_740del12

Gene level identifier:

g.52051_52062del12

Reference, alternative allele:

GTTGCACCGAGCA, G

Genomic location hg(0)

22:38536045 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

in frame indel

Pathogenicity scoring:

Possibly pathogenic

CADD score:

18

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).