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Variant (rsID / SNP)

rs267606752

CREBBP

rs267606752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,799,632. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CREBBPPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:3799632
Cytoband
16p13.3
HGVS
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
Allele change
Missense_E1240K

Associated conditions / phenotypes

Rubinstein-Taybi syndrome due to CREBBP mutations|Intellectual disability|Inborn genetic diseases|Abnormality of the nervous system

Public references

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