Mutation details:

Protein level identifier (n.a.):

p.Asn355Lys

cDNA level identifier (n.a.):

c.1065C>A

Gene level identifier:

g.90686C>A

Reference, alternative allele:

C, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

12 heterozygous (12 in total).