Protein level identifier (n.a.):

p.Gly284Arg

cDNA level identifier (n.a.):

c.850G>C

Gene level identifier:

g.941979G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous, 8 compound heterozygous (10 in total).