Mutation details:

Protein level identifier (n.a.):

p.Lys407del

cDNA level identifier (n.a.):

c.1220_1222delAGA

Gene level identifier:

g.95623_95625delAGA

Reference, alternative allele:

AAGA, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

unknown effect

Pathogenicity scoring:

Possibly pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).