Mutation details:

cDNA level identifier (n.a.):

c.1068+1G>T

Gene level identifier:

g.51112G>T

Archive identifier/Other designation:

IVS10+1G>T

Reference, alternative allele:

C, A

Genomic location

3:33087611 (not available on ExAC)

Gene name:

GLB1

Consequence:

splice site

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).