Mutation details:

Protein level identifier (n.a.):

p.Ala492Glyfs*55

cDNA level identifier (n.a.):

c.1474dupG

Gene level identifier:

g.95877dupG

Reference, alternative allele:

G, GG

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

35

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).