Mutation details:

Protein level identifier (n.a.):

p.His247Pro

cDNA level identifier (n.a.):

c.740A>C

Gene level identifier:

g.81881A>C

Reference, alternative allele:

A, C

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:

2 heterozygous (2 in total).