Mutation details:

Protein level identifier (n.a.):

p.Thr67Met

cDNA level identifier (n.a.):

c.200C>T

Gene level identifier:

g.4275C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

11:112101362 (not available on ExAC)

Gene name:

PTS

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Positive functional evidence:

not available

Number of all included cases:

2 homozygous, 7 compound heterozygous (9 in total).

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