Mutation details:

Protein level identifier (n.a.):

p.Trp527Leufs*5

cDNA level identifier (n.a.):

c.1577dupG

Gene level identifier:

g.83018dupG

Reference, alternative allele:

G, GC

Genomic location

3:33055704 (not available on ExAC)

Gene name:

GLB1

Consequence:

structural variation

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).