Variant (rsID / SNP)

rs147688139

rs147688139 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,786,813. Clinical significance in the table: Pathogenic.

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Reference-table entries

CREBBPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:3786813
Cytoband: 16p13.3
HGVS: NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
Allele change: Synonymous_Y1428Y

Associated conditions / phenotypes

Rubinstein-Taybi syndrome due to CREBBP mutations

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.