Variant: rs1554310600 

    present in Gene: TMEM106B
    present in Chromosome: 7
    Position on Chromosome: 12231904
    Alleles of this Variant: G/A

rs1554310600 in TMEM106B gene and LEUKODYSTROPHY, HYPOMYELINATING, 16 PMID 29444210 2018 The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

PMID 29186371 2017 A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.