Mutation details:

Protein level identifier (n.a.):

p.Arg158Thr

cDNA level identifier (n.a.):

c.473G>C

Gene level identifier:

g.59082G>C

Reference, alternative allele:

G, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).