Variant (rsID / SNP)

rs145733598

rs145733598 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,820,879. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CREBBPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:3820879
Cytoband: 16p13.3
HGVS: NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser)
Allele change: Missense_P820S

Associated conditions / phenotypes

History of neurodevelopmental disorder|Rubinstein-Taybi syndrome

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.