Protein level identifier (NP_115785):

p.Gln456*

cDNA level identifier (NM_032409):

c.1366C>T

Gene level identifier:

g.15655C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

13 homozygous, 1 compound heterozygous (14 in total).