Mutation details:

Protein level identifier (NP_000311):

p.Trp108Gly

cDNA level identifier (NM_000320):

c.322T>G

Gene level identifier:

g.10402T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

4:17503456 (not available on ExAC)

Gene name:

QDPR

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).