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Variant (rsID / SNP)

rs559917218

NOTCH1

rs559917218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,405,696. 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
9:139405696
Cytoband
9q34.3
HGVS
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)
Allele change
Missense_P832L

Associated conditions / phenotypes

Inborn genetic diseases|Adams-Oliver syndrome 5|Bicuspid aortic valve

Public references

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