Mutation details:

Protein level identifier (n.a.):

p.Asp498Gly

cDNA level identifier (n.a.):

c. 1493A>G

Gene level identifier:

g.7551A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

11:2185557 (not available on ExAC)

Gene name:

TH

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).