Have questions? Visit https://www.reddit.com/r/SNPedia

rs587784312

From SNPedia

ClinVar
Risk rs587784312(;)
Alt rs587784312(;)
Reference rs587784312(GCAGCCCCTG;GCAGCCCCTG)
Significance Pathogenic
Disease Microcephalic osteodysplastic primordial dwarfism type 2
Variation info
Gene PCNT
CLNDBN Microcephalic osteodysplastic primordial dwarfism type 2
Reversed 0
HGVS NC_000021.8:g.47831714_47831723delCCTGGCAGCC
CLNSRC
CLNACC RCV000147153.1,