Variant (rsID / SNP)
rs2306393
rs2306393 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MDM1. Location: chromosome 12, position 68,708,761. The table records no clinical significance for this variant.
Reference-table entries
MDM1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 12:68708761
- HGVS
- NM_001354969.2,c.1496G>A,p.Arg499His
- Allele change
- Missense_R219H
Associated conditions / phenotypes
Missense_R449H|Missense_R219H|Missense_R219H
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.