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Variant (rsID / SNP)

rs137852642

NOTCH3

rs137852642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,303,053. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NOTCH3Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:15303053
Cytoband
19p13.12
HGVS
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
Allele change
Missense_R133C

Associated conditions / phenotypes

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

Public references

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