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rs397509362

From SNPedia

ClinVar
Risk rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Alt rs397509362(CTAGCAGAACCTTTATCA;CTAGCAGAACCTTTATCA)
Reference rs397509362(;)
Significance Pathogenic
Disease Methylmalonic aciduria Methylmalonic acidemia with homocystinuria cblD
Variation info
Gene MMADHC
CLNDBN Methylmalonic aciduria, cblD type, variant 2 Methylmalonic acidemia with homocystinuria cblD
Reversed 1
HGVS NC_000002.11:g.150435993_150436010dup18
CLNSRC OMIM Allelic Variant
CLNACC RCV000000802.5, RCV000203341.1,