Mutation details:

Protein level identifier (n.a.):

p.Tyr174His

cDNA level identifier (n.a.):

c.520T>C

Gene level identifier:

g.31736T>C

Reference, alternative allele:

A, G

Genomic location

3:33106987 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

31

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).