Variant (rsID / SNP)

rs147223770

rs147223770 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH2. Location: chromosome 1, position 120,478,125. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOTCH2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:120478125
Cytoband: 1p12
HGVS: NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val)
Allele change: Missense_F1209V

Associated conditions / phenotypes

Hajdu-Cheney syndrome

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.