Variant (rsID / SNP)

rs201493851

rs201493851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,390,893. 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: 9:139390893
Cytoband: 9q34.3
HGVS: NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)
Allele change: Missense_F2433S

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.