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Variant (rsID / SNP)

rs115849119

EP300

rs115849119 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,548,198. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EP300Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:41548198
Cytoband
22q13.2
HGVS
NM_001429.4(EP300):c.2998-12G>A
Allele change
Silent

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.