Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs115029695

NOTCH3

rs115029695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,302,307. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

NOTCH3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:15302307
Cytoband
19p13.12
HGVS
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met)
Allele change
Missense_V322M

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.