Variant (rsID / SNP)

rs147583157

rs147583157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EP300. Location: chromosome 22, position 41,521,877. 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: 22:41521877
Cytoband: 22q13.2
HGVS: NM_001429.4(EP300):c.739A>G (p.Met247Val)
Allele change: Missense_M247V

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.