Mutation details:

Protein level identifier (n.a.):

p.His258Arg

cDNA level identifier (n.a.):

c.773A>G

Gene level identifier:

g.81914A>G

Reference, alternative allele:

A, G

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

14

Positive functional evidence:

not available

Number of all included cases:

4 heterozygous (4 in total).