Variant (rsID / SNP)

rs148802016

rs148802016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MGAT2. Location: chromosome 14, position 50,088,346. Clinical significance in the table: Benign.

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Reference-table entries

MGAT2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:50088346
Cytoband: 14q21.3
HGVS: NM_002408.4(MGAT2):c.360G>A (p.Leu120=)
Allele change: Synonymous_L120L

Associated conditions / phenotypes

MGAT2-congenital disorder of glycosylation

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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