Mutation details:

Protein level identifier (NP_000152):

p.Val204Gly

cDNA level identifier (NM_000161):

c.611T>G

Gene level identifier:

g.57070T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

14:55312501 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).

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