Mutation details:

Protein level identifier (n.a.):

p.Arg148Cys

cDNA level identifier (n.a.):

c.442C>T

Gene level identifier:

g.28986C>T

Reference, alternative allele:

G, A

Genomic location

3:33109737 (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:

1 compound heterozygous (1 in total).