Mutation details:

Protein level identifier (NP_000152):

p.Gly217Val

cDNA level identifier (NM_000161):

c.650G>T

Gene level identifier:

g.58733G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

14:55310838 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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