Mutation details:

Protein level identifier (n.a.):

p.Gly409Asp

cDNA level identifier (n.a.):

c.1226G>A

Gene level identifier:

g.95629G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).