Gene: TRAPPC2L ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs866745731
rs866745731
GALNS ; TRAPPC2L ; LOC107983950
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. 7795586

1995
dbSNP: rs866745731
rs866745731
GALNS ; TRAPPC2L ; LOC107983950
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients. 7633425

1995
dbSNP: rs866745731
rs866745731
GALNS ; TRAPPC2L ; LOC107983950
0.700 GeneticVariation UNIPROT Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases. 1522213

1992
dbSNP: rs911452920
rs911452920
GALNS ; TRAPPC2L ; LOC107983950
0.010 GeneticVariation BEFREE The p.Q12X and p.Y254X were associated with severe MPS IVA phenotype. 27825773

2017
dbSNP: rs771531650
rs771531650
GALNS ; TRAPPC2L ; LOC107983950
0.010 GeneticVariation BEFREE We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. 27317439

2016
dbSNP: rs935071754
rs935071754
GALNS ; TRAPPC2L ; LOC107983950
0.010 GeneticVariation BEFREE We have identified an unreported missense mutation p.D288G (c.863A > G) in one patient, the most frequently c.120 + 1G > A (IVS1 + 1G > A) mutation in eleven MPS IVA patients and three previously reported mutations p.G66R, p.A85T and p.R386C on the other MPS IVA patients. 27317439

2016