Mutation details:

cDNA level identifier (n.a.):

c.35-3C>T

Gene level identifier:

g.55320C>T

Archive identifier/Other designation:

IVS1-3C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

14

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).