Protein level identifier (n.a.):

p.Arg275Trp

cDNA level identifier (n.a.):

c.823C>T

Gene level identifier:

g.941952C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 homozygous, 74 compound heterozygous (82 in total).