Variant (rsID / SNP)

rs118203913

rs118203913 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFT1. Location: chromosome 3, position 53,157,807. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RFT1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:53157807
Cytoband: 3p21.1
HGVS: NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)
Allele change: Missense_R67C

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.