Variant (rsID / SNP)
rs4942848
rs4942848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RCBTB1. Location: chromosome 13, position 50,141,345. The table records no clinical significance for this variant.
Reference-table entries
RCBTB1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 13:50141345
- HGVS
- NM_001352500.2,c.71C>T,p.Ala24Val
- Allele change
- Missense_A24V
Associated conditions / phenotypes
Missense_A24V|Missense_A24V|Missense_A24V|Missense_A24V
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.