Mutation details:

Protein level identifier (n.a.):

p.Thr500Ala

cDNA level identifier (n.a.):

c.1498A>G

Gene level identifier:

g.82939A>G

Reference, alternative allele:

T, C

Genomic location

3:33055784 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 compound heterozygous (5 in total).