Protein level identifier (n.a.):

p.Asp136Val

cDNA level identifier (n.a.):

c.407A>T

Gene level identifier:

g.7160A>T

Reference, alternative allele:

A, T

Genomic location hg(0)

11:112104247 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous, 2 compound heterozygous (5 in total).