Variant (rsID / SNP)

rs142032474

rs142032474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOGS. Location: chromosome 2, position 74,689,078. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MOGSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:74689078
Cytoband: 2p13.1
HGVS: NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln)
Allele change: Missense_R507Q

Associated conditions / phenotypes

MOGS-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.