Mutation details:

Protein level identifier (n.a.):

p.Arg49His

cDNA level identifier (n.a.):

c.146G>A

Gene level identifier:

g.24588G>A

Reference, alternative allele:

C, T

Genomic location

3:33114135 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).