Mutation details:

Protein level identifier (NP_000152):

p.Arg249Ser

cDNA level identifier (NM_000161):

c.747G>C

Gene level identifier:

g.58830G>C

Reference, alternative allele:

C, G

Genomic location hg(0)

14:55310741 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).