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Variant (rsID / SNP)

rs1057521737

EP300

rs1057521737 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,569,772. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EP300Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:41569772
Cytoband
22q13.2
HGVS
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
Allele change
Missense_M1588T

Associated conditions / phenotypes

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Colorectal carcinoma|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.