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Variant (rsID / SNP)

rs35136134

NOTCH1

rs35136134 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,405,649. 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
9:139405649
Cytoband
9q34.3
HGVS
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
Allele change
Missense_E848K

Associated conditions / phenotypes

Adams-Oliver syndrome 5|Cardiovascular phenotype|Connective tissue disorder|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.