Mutation details:

Protein level identifier (n.a.):

p.Ile18Thr

cDNA level identifier (n.a.):

c.53T>C

Gene level identifier:

g.132T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

11:112097219 (not available on ExAC)

Gene name:

PTS

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).

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