Variant (rsID / SNP)
rs136478
rs136478 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RFPL2. Location: chromosome 22, position 32,589,023. The table records no clinical significance for this variant.
Reference-table entries
RFPL2Not classified
- Variant type
- missense_variant
- Chromosome / position
- 22:32589023
- HGVS
- NM_001364983.3,c.536G>A,p.Cys179Tyr
- Allele change
- Missense_C80Y
Associated conditions / phenotypes
Missense_C73Y|Missense_C51Y|Missense_C51Y|Missense_C51Y
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.