Mutation details:

Protein level identifier (NP_000152):

p.Pro199Ala

cDNA level identifier (NM_000161):

c.595C> G

Gene level identifier:

g.57054C>G

Reference, alternative allele:

G, C

Genomic location hg(0)

14:55312517 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).