Mutation details:

Protein level identifier (n.a.):

p.His49Gln

cDNA level identifier (n.a.):

c.147T>G

Gene level identifier:

g.2293T>G

Reference, alternative allele:

T, G

Genomic location hg(0)

11:112099380 (not available on ExAC)

Gene name:

PTS

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).