Protein level identifier (n.a.):

p.Glu409*

cDNA level identifier (n.a.):

c.1225G>T

Gene level identifier:

g.1367624G>T

Archive identifier/Other designation:

1287G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

6:161781180 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 2 compound heterozygous (3 in total).