Mutation details:

Protein level identifier (n.a.):

p.Arg239Cys

cDNA level identifier (n.a.):

c.715C>T

Gene level identifier:

g.80835C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

17321752;

Number of all included cases:

52 heterozygous (52 in total).