Protein level identifier (n.a.):

p.Trp445*

cDNA level identifier (n.a.):

c.1335G>A

Gene level identifier:

g.1377610G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

6:161771194 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous, 2 compound heterozygous (4 in total).