rs80338851, B3GLCT

N. diseases: 3
Disease: Popliteal pterygium syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Popliteal pterygium syndrome
CUI: C0265259
Disease: Popliteal pterygium syndrome
0.010 GeneticVariation BEFREE This strategy, applied to trio sequencing data in compliance with ACMG 2015 guidelines, helped us find two compound heterozygous variants of the <i>B3GLCT</i> gene, of which c.660+1G>A (rs80338851) was previously associated with the phenotype of Peters plus syndrome (PPS), while the second, NM_194318.3:c.755delC (p.T252fs), in exon 9 of the same gene was noted for the first time. 31795264 2019