Variant (rsID / SNP)

rs312262801

rs312262801 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH2. Location: chromosome 1, position 120,460,308. Clinical significance in the table: Pathogenic.

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Reference-table entries

NOTCH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:120460308
Cytoband: 1p12
HGVS: NM_024408.4(NOTCH2):c.6007C>T (p.Arg2003Ter)
Allele change: Nonsense_R2003X

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.