Variant (rsID / SNP)
rs4608
rs4608 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPN2. Location: chromosome 20, position 35,865,054. Clinical significance in the table: Benign.
Reference-table entries
RPN2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:35865054
- Cytoband
- 20q11.23
- HGVS
- NM_002951.5(RPN2):c.1825C>T (p.Leu609=)
- Allele change
- Synonymous_L625L
Associated conditions / phenotypes
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.