Mutation details:

Protein level identifier (NP_000152):

p.Ala8*

cDNA level identifier (NM_000161):

c.22_23GC>TA

Gene level identifier:

g.211_212GC>TA

Reference, alternative allele:

GC, TA

Genomic location hg(0)

14:55369359 (not available on ExAC)

Gene name:

GCH1

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).

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