Mutation details:

Protein level identifier (n.a.):

p.Arg442Gln

cDNA level identifier (n.a.):

c.1325G>A

Gene level identifier:

g.78761G>A

Archive identifier/Other designation:

IVS12+8T>C

Reference, alternative allele:

C, T

Genomic location

3:33059962 (not available on ExAC)

Gene name:

GLB1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

16314480;

Number of all included cases:

3 compound heterozygous (3 in total).

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