Mutation details:

Protein level identifier (n.a.):

p.Gly469Ala

cDNA level identifier (n.a.):

c.1406G>C

Gene level identifier:

g.95809G>C

Reference, alternative allele:

G, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).