Variant (rsID / SNP)

rs367838230

rs367838230 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,399,172. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NOTCH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:139399172
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg)
Allele change: Synonymous_S1657S

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Adams-Oliver syndrome 5|Aortic valve disease 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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