Protein level identifier (n.a.):

p.Tyr790*

cDNA level identifier (n.a.):

c.2370T>G

Gene level identifier:

g.79889T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

22:38508219 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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