Protein level identifier (n.a.):

p.Arg233His

cDNA level identifier (n.a.):

c.698G>A

Gene level identifier:

g.3973G>A

Reference, alternative allele:

C, T

Genomic location hg(0)

11:2189135 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

9 homozygous, 24 compound heterozygous (33 in total).