Mutation details:

cDNA level identifier (n.a.):

c.426_797del372

Gene level identifier:

g.48813_52119del

Archive identifier/Other designation:

Exon 4-5 deletion

Reference, alternative allele:

C+3307, C

Genomic location hg(0)

22:38535988 (not available on ExAC)

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:

1 n.a. (1 in total).