rs542844862, PEX16

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
0.010 GeneticVariation BEFREE Using whole genome sequencing, we detected previously unreported, biallelic variants in <i>PEX16</i> [NM_004813.2:c.658G>A, p.(Ala220Thr) and NM_004813.2:c.830G>A, p.(Arg277Gln)] in an individual with leukodystrophy, spastic paraplegia, cerebellar ataxia, and craniocervical dystonia with normal plasma very long chain fatty acids. 30094183 2018