Mutation details:

Protein level identifier (n.a.):

p.Gly482Val

cDNA level identifier (n.a.):

c.1445G>T

Gene level identifier:

g.95848G>T

Reference, alternative allele:

G, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).