Mutation details:

Protein level identifier (n.a.):

p.Thr384Ser

cDNA level identifier (n.a.):

c.1150A>T

Gene level identifier:

g.75582A>T

Reference, alternative allele:

T, A

Genomic location

3:33063141 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).