Mutation details:

Protein level identifier (NP_000152):

p.Ala73Asp

cDNA level identifier (NM_000161):

c.218C>A

Gene level identifier:

g.407C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

14:55369164 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

13

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).