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rs386833775

From SNPedia

ClinVar
Risk rs386833775(;)
Alt rs386833775(;)
Reference rs386833775(GAAAGAACCTGTAGGTGGA;GAAAGAACCTGTAGGTGGA)
Significance Probable-Pathogenic
Disease Megaloblastic anemia due to inborn errors of metabolism
Variation info
Gene CUBN
CLNDBN Megaloblastic anemia due to inborn errors of metabolism
Reversed 1
HGVS NC_000010.10:g.17113517_17113535del19
CLNSRC ClinVar
CLNACC RCV000049740.1,


[PMID 22929189OA-icon.png] Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.