Mutation details:

Protein level identifier (n.a.):

p.Arg201Cys

cDNA level identifier (n.a.):

c.601C>T

Gene level identifier:

g.39010C>T

Reference, alternative allele:

G, A

Genomic location

3:33099713 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

20826101;

Number of all included cases:

2 compound heterozygous (2 in total).

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