Mutation details:

Protein level identifier (n.a.):

p.Ser346Ala

cDNA level identifier (n.a.):

c.1036T>G

Gene level identifier:

g.89380T>G

Reference, alternative allele:

T, G

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:

6 heterozygous (6 in total).