Variant (rsID / SNP)

rs76371972

rs76371972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,399,320. Clinical significance in the table: Benign.

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Reference-table entries

NOTCH1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:139399320
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
Allele change: Missense_R1608H

Associated conditions / phenotypes

Adams-Oliver syndrome 5|Cardiovascular phenotype|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.