Variant (rsID / SNP)

rs148693910

rs148693910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,513,682. Clinical significance in the table: Uncertain significance.

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Reference-table entries

EP300Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:41513682
Cytoband: 22q13.2
HGVS: NM_001429.4(EP300):c.586A>G (p.Ile196Val)
Allele change: Missense_I196V

Associated conditions / phenotypes

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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