Mutation details:

Protein level identifier (n.a.):

p.Glu502Alafs*44

cDNA level identifier (n.a.):

c.1505_1506delAG

Gene level identifier:

g.95908_95909delAG

Reference, alternative allele:

GAG, G

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).