Variant (rsID / SNP)

rs201518848

rs201518848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,391,710. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NOTCH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:139391710
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser)
Allele change: Missense_P2161S

Associated conditions / phenotypes

Adams-Oliver syndrome 5|Aortic valve disease 1|Adams-Oliver syndrome 5|Aortic valve 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.