Mutation details:

Protein level identifier (NP_000311):

p.Ser59*

cDNA level identifier (NM_000320):

c.176C>A

Gene level identifier:

g.2942C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

4:17510916 (not available on ExAC)

Gene name:

QDPR

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).