Mutation details:

Protein level identifier (n.a.):

p.Ser191Asn

cDNA level identifier (n.a.):

c.572G>A

Gene level identifier:

g.38981G>A

Reference, alternative allele:

C, T

Genomic location

3:33099742 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).