Mutation details:

Protein level identifier (NP_000152):

p.Ala98Val

cDNA level identifier (NM_000161):

c.293C>T

Gene level identifier:

g.482C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

14:55369089 (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:

5 heterozygous (5 in total).