Mutation details:

Protein level identifier (n.a.):

p.Met1?

cDNA level identifier (n.a.):

c.3G>A

Gene level identifier:

g.82G>A

Reference, alternative allele:

G, A

Genomic location hg(0)

11:112097169 (not available on ExAC)

Gene name:

PTS

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).