Mutation details:

Protein level identifier (NP_000152):

p.Val206Ala

cDNA level identifier (NM_000161):

c.617T>C

Gene level identifier:

g.57076T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

14:55312495 (not available on ExAC)

Gene name:

GCH1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).