Mutation details:

Protein level identifier (n.a.):

p.Arg118Gln

cDNA level identifier (n.a.):

c.353G>A

Gene level identifier:

g.58503G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

6 homozygous, 3 heterozygous (9 in total).