Mutation details:

Protein level identifier (NP_000152):

p.Gln180Pro

cDNA level identifier (NM_000161):

c.539A>C

Gene level identifier:

g.55752A>C

Reference, alternative allele:

T, G

Genomic location hg(0)

14:55313819 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

34

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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