Protein level identifier (NP_065753):

p.Trp75*

cDNA level identifier (NM_020702):

c.225G>A

Gene level identifier:

g.4135G>A

Archive identifier/Other designation:

p.W75*

Reference, alternative allele:

C, T

Genomic location hg(19)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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