Mutation details:

Protein level identifier (n.a.):

p.Arg415Gln

cDNA level identifier (n.a.):

c.1244G>A

Gene level identifier:

g.95647G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Positive functional evidence:

not available

Number of all included cases:

4 homozygous, 2 heterozygous (6 in total).