Variant (rsID / SNP)
rs2302427
rs2302427 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EZH2. Location: chromosome 7, position 148,525,904. Clinical significance in the table: Benign.
Reference-table entries
EZH2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:148525904
- Cytoband
- 7q36.1
- HGVS
- NM_004456.5(EZH2):c.553G>C (p.Asp185His)
- Allele change
- Missense_D185H
Associated conditions / phenotypes
Weaver syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.