Mutation details:

Protein level identifier (n.a.):

p.Arg217*

cDNA level identifier (n.a.):

c.649C>T

Gene level identifier:

g.80769C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

38

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).