Protein level identifier (n.a.):

p.Arg42Pro

cDNA level identifier (n.a.):

c.125G>C

Gene level identifier:

g.284416G>C

Archive identifier/Other designation:

226G>C

Reference, alternative allele:

C, G

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:

11 homozygous, 5 compound heterozygous (16 in total).