Protein level identifier (n.a.):

p.Ile406Val

cDNA level identifier (n.a.):

c.1216A>G

Gene level identifier:

g.64840A>G

Reference, alternative allele:

A, G

Genomic location

not available

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

8 heterozygous, 1 compound heterozygous (9 in total).