Mutation details:

Protein level identifier (NP_000311):

p.Trp215Arg

cDNA level identifier (NM_000320):

c.643T>C

Gene level identifier:

g.25012T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

4:17488846 (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).