Variant (rsID / SNP)

rs130003

rs130003 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,828,172. Clinical significance in the table: Benign.

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Reference-table entries

CREBBPBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:3828172
Cytoband: 16p13.3
HGVS: NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=)
Allele change: Synonymous_Y613Y

Associated conditions / phenotypes

Rubinstein-Taybi syndrome|History of neurodevelopmental disorder

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.