Variant (rsID / SNP)

rs138504021

rs138504021 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,409,976. Clinical significance in the table: Likely benign.

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Reference-table entries

NOTCH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:139409976
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
Allele change: Missense_R621H

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

dbSNP
ClinVar
Ensembl
gnomAD

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