Protein level identifier (NP_982271):

p.Arg258Gln

cDNA level identifier (NM_203446):

c.773G>A

Gene level identifier:

g.32944G>A

Archive identifier/Other designation:

p.Arg258Gln

Reference, alternative allele:

C, T

Genomic location hg(0)

21:34067416 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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