Mutation details:

Protein level identifier (n.a.):

p.Tyr336His

cDNA level identifier (n.a.):

c.1006T>C

Gene level identifier:

g.89350T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).