Variant (rsID / SNP)

rs864622056

rs864622056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,412,302. Clinical significance in the table: Pathogenic.

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Reference-table entries

NOTCH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:139412302
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln)
Allele change: Missense_R448Q

Associated conditions / phenotypes

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.