Mutation details:

Protein level identifier (n.a.):

p.Arg416Cys

cDNA level identifier (n.a.):

c.1246C>T

Gene level identifier:

g.95649C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

13 heterozygous (13 in total).