Mutation details:

Protein level identifier (n.a.):

p.Ser589Thrfs*76

cDNA level identifier (n.a.):

c.1765_1768delTCTG

Gene level identifier:

g.75912_75915delTCTG

Reference, alternative allele:

TCAGA, T

Genomic location hg(0)

22:38512192 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).