Mutation details:

Protein level identifier (n.a.):

p.Gln673*

cDNA level identifier (n.a.):

c.2017C>T

Gene level identifier:

g.76557C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38511551 (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).