Protein level identifier (n.a.):

p.Arg635*

cDNA level identifier (n.a.):

c.1903C>T

Gene level identifier:

g.76443C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38511665 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 4 compound heterozygous (5 in total).