Protein level identifier (n.a.):

p.Ala111Ser

cDNA level identifier (n.a.):

c.331G>T

Gene level identifier:

g.7084G>T

Reference, alternative allele:

G, T

Genomic location hg(0)

11:112104171 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 3 compound heterozygous (4 in total).