Mutation details:

Protein level identifier (n.a.):

p.Gln232*

cDNA level identifier (n.a.):

c.694C>T

Gene level identifier:

g.3969C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

11:2189139 (not available on ExAC)

Gene name:

TH

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 compound heterozygous (5 in total).

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