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Variant (rsID / SNP)

rs140584714

MGAT2

rs140584714 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MGAT2. Location: chromosome 14, position 50,088,085. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MGAT2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:50088085
Cytoband
14q21.3
HGVS
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn)
Allele change
Missense_K33N

Associated conditions / phenotypes

MGAT2-congenital disorder of glycosylation

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.