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Variant (rsID / SNP)

rs546554430

CREBBP

rs546554430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,779,219. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CREBBPConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:3779219
Cytoband
16p13.3
HGVS
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=)
Allele change
Synonymous_P1905P

Associated conditions / phenotypes

History of neurodevelopmental disorder|Rubinstein-Taybi syndrome

Public references

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