Mutation details:

Protein level identifier (NP_000311):

p.Ala175Arg

cDNA level identifier (NM_000320):

c.523_524delGCinsAG

Gene level identifier:

g.19981_19982delGCinsAG

Reference, alternative allele:

TGC, TCT

Genomic location hg(0)

4:17493875 (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).