Variant (rsID / SNP)
rs886041830
rs886041830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,551,019. Clinical significance in the table: Pathogenic.
Reference-table entries
EP300Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:41551019
- Cytoband
- 22q13.2
- HGVS
- NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)
- Allele change
- Nonsense_R1055X
Associated conditions / phenotypes
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.