Mutation details:

Protein level identifier (n.a.):

p.Lys683*

cDNA level identifier (n.a.):

c.2047A>T

Gene level identifier:

g.78459A>T

Reference, alternative allele:

T, A

Genomic location hg(0)

22:38509649 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

41

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).