Variant (rsID / SNP)

rs75423398

rs75423398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH2. Location: chromosome 1, position 120,471,712. Clinical significance in the table: Benign.

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Reference-table entries

NOTCH2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:120471712
Cytoband: 1p12
HGVS: NM_024408.4(NOTCH2):c.3779G>A (p.Arg1260His)
Allele change: Missense_R1260H

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.