Protein level identifier (n.a.):

p.Asp331Tyr

cDNA level identifier (n.a.):

c.991G>T

Gene level identifier:

g.59184G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

22:38528924 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

3 homozygous, 5 compound heterozygous (8 in total).