Mutation details:

cDNA level identifier (n.a.):

c.(797+1_798-1)_(1077+1_1078-1)del

Archive identifier/Other designation:

Exon 5-6 deletion

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:

3 homozygous (3 in total).