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Variant (rsID / SNP)

rs183156491

NOTCH1

rs183156491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,400,320. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOTCH1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
9:139400320
Cytoband
9q34.3
HGVS
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
Allele change
Missense_A1343V

Associated conditions / phenotypes

Cardiovascular phenotype|Connective tissue disorder|Adams-Oliver syndrome 5|Familial thoracic aortic aneurysm and aortic dissection|Aortic valve disease 1

Public references

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