Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs202133782

NOTCH1

rs202133782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,401,872. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NOTCH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:139401872
Cytoband
9q34.3
HGVS
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=)
Allele change
Synonymous_H1176H

Associated conditions / phenotypes

Adams-Oliver syndrome 5|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.