Mutation details:

Protein level identifier (n.a.):

p.Phe151Ser

cDNA level identifier (n.a.):

c.452T>C

Gene level identifier:

g.59061T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

not available

Gene name:

ATL1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

29180453;

Number of all included cases:

3 heterozygous (3 in total).

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