Mutation details:

Protein level identifier (NP_000311):

p.Pro172Leu

cDNA level identifier (NM_000320):

c.515C>T

Gene level identifier:

g.19973C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

4:17493885 (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 compound heterozygous (1 in total).

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