Mutation details:

Protein level identifier (NP_000152):

p.Arg184Cys

cDNA level identifier (NM_000161):

c.550C>T

Gene level identifier:

g.57009C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

14:55312562 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

27

Positive functional evidence:

not available;

Number of all included cases:

6 heterozygous (6 in total).

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