Mutation details:

Protein level identifier (n.a.):

p.Arg416His

cDNA level identifier (n.a.):

c.1247G>A

Gene level identifier:

g.95650G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).