Mutation details:

Protein level identifier (NP_000152):

p.Ser77Profs*3

cDNA level identifier (NM_000161):

c.228delG

Gene level identifier:

g.417delG

Reference, alternative allele:

AC, A

Genomic location hg(19)

14:55369154 (not available on ExAC)

Gene name:

GCH1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Positive functional evidence:

not available;

Number of all included cases:

3 heterozygous (3 in total).

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