Variant (rsID / SNP)
rs139310551
rs139310551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,572,404. Clinical significance in the table: Pathogenic.
Reference-table entries
EP300Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:41572404
- Cytoband
- 22q13.2
- HGVS
- NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)
- Allele change
- Synonymous_R1645R
Associated conditions / phenotypes
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.