Mutation details:

cDNA level identifier (n.a.):

c.75+2dupT

Gene level identifier:

g.222dupT

Archive identifier/Other designation:

IVS1+2dupT

Reference, alternative allele:

A, AA

Genomic location

3:33138501 (not available on ExAC)

Gene name:

GLB1

Consequence:

structural variation

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).