Variant (rsID / SNP)

rs76473337

rs76473337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,400,086. 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: 9:139400086
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser)
Allele change: Missense_N1421S

Associated conditions / phenotypes

Cardiovascular phenotype|Adams-Oliver syndrome 5

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.