Variant (rsID / SNP)

rs796065045

rs796065045 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,272,192. Clinical significance in the table: Pathogenic.

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Reference-table entries

NOTCH3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:15272192
Cytoband: 19p13.12
HGVS: NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)
Allele change: Nonsense_K2083X

Associated conditions / phenotypes

Lateral meningocele 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.