Variant (rsID / SNP)

rs140603849

rs140603849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFT1. Location: chromosome 3, position 53,139,722. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RFT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:53139722
Cytoband: 3p21.1
HGVS: NM_052859.4(RFT1):c.924G>A (p.Leu308=)
Allele change: Synonymous_L308L

Associated conditions / phenotypes

RFT1-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.