Mutation details:

Protein level identifier (n.a.):

p.Asp508Argfs*39

cDNA level identifier (n.a.):

c.1520_1521insT

Gene level identifier:

g.95923_95924insT

Reference, alternative allele:

T, TT

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:

9 heterozygous (9 in total).