Mutation details:

Protein level identifier (n.a.):

p.Arg145His

cDNA level identifier (n.a.):

c.434G>A

Gene level identifier:

g.5682G>A

Genomic location hg(19)

null:null

Gene name:

KCTD17

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous (8 in total).