Protein level identifier (n.a.):

p.Gly430Asp

cDNA level identifier (n.a.):

c.1289G>A

Gene level identifier:

g.1377564G>A

Reference, alternative allele:

C, T

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:

4 homozygous, 19 compound heterozygous (23 in total).