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Variant (rsID / SNP)

rs1057517732

EP300

rs1057517732 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,572,254. 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
22:41572254
Cytoband
22q13.2
HGVS
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)
Allele change
Missense_F1595V

Associated conditions / phenotypes

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency|Multiple congenital anomalies|Inborn genetic diseases

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.