Variant (rsID / SNP)

rs35586704

rs35586704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH2. Location: chromosome 1, position 120,458,122. 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: 1:120458122
Cytoband: 1p12
HGVS: NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
Allele change: Missense_L2408H

Associated conditions / phenotypes

Hajdu-Cheney syndrome|Hirschsprung disease, susceptibility to, 1|See cases

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.