Mutation details:

cDNA level identifier (n.a.):

c.508-1G>C

Gene level identifier:

g.7574G>C

Archive identifier/Other designation:

IVS5-1G>A

Genomic location hg(19)

null:null

Gene name:

KCTD17

Consequence:

splice site 1 3bp

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).