Mutation details:

cDNA level identifier (n.a.):

c.(609+1_610-1)_(1186+1_1187-1)dup

Archive identifier/Other designation:

Exon 4-7 duplication

Genomic location hg(0)

not available

Gene name:

PLA2G6

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).