Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs11670799

NOTCH3

rs11670799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,299,051. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NOTCH3Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
19:15299051
Cytoband
19p13.12
HGVS
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
Allele change
Missense_P496L

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.