Variant (rsID / SNP)

rs149961222

rs149961222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CREBBP. Location: chromosome 16, position 3,860,684. Clinical significance in the table: Likely benign.

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Reference-table entries

CREBBPLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:3860684
Cytoband: 16p13.3
HGVS: NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly)
Allele change: Missense_S299G

Associated conditions / phenotypes

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.