Mutation details:

Protein level identifier (n.a.):

p.Asn436del

cDNA level identifier (n.a.):

c.1306_1308delAAT

Gene level identifier:

g.95709_95711delAAT

Reference, alternative allele:

CAAT, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

18 heterozygous (18 in total).