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Variant (rsID / SNP)

rs182330532

NOTCH1

rs182330532 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,401,234. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NOTCH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:139401234
Cytoband
9q34.3
HGVS
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
Allele change
Missense_R1279C

Associated conditions / phenotypes

Cardiovascular phenotype|Adams-Oliver syndrome 5|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.