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Variant (rsID / SNP)

rs141320511

NOTCH3

rs141320511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,285,063. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOTCH3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:15285063
Cytoband
19p13.12
HGVS
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
Allele change
Missense_L1518M

Associated conditions / phenotypes

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.