Mutation details:

Protein level identifier (n.a.):

p.Ile354Ser

cDNA level identifier (n.a.):

c.1061T>G

Gene level identifier:

g.51104T>G

Reference, alternative allele:

A, C

Genomic location

3:33087619 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).