Mutation details:

Protein level identifier (n.a.):

p.Arg201His

cDNA level identifier (n.a.):

c.602G>A

Gene level identifier:

g.39011G>A

Reference, alternative allele:

C, T

Genomic location

3:33099712 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

16314480;

Number of all included cases:

6 compound heterozygous (6 in total).