Variant (rsID / SNP)
rs17002307
rs17002307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,536,165. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
EP300Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:41536165
- Cytoband
- 22q13.2
- HGVS
- NM_001429.4(EP300):c.1782G>C (p.Thr594=)
- Allele change
- Synonymous_T594T
Associated conditions / phenotypes
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal cancer
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.