Mutation details:

Protein level identifier (NP_000152):

p.Leu145Phe

cDNA level identifier (NM_000161):

c.435G>T

Gene level identifier:

g.37508G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55332063 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

24

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).