Protein level identifier (NP_115785):

p.Arg492*

cDNA level identifier (NM_032409):

c.1474C>T

Gene level identifier:

g.15763C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

Number of all included cases:

3 homozygous, 5 compound heterozygous (8 in total).