Variant (rsID / SNP)

rs1043996

rs1043996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,295,134. Clinical significance in the table: Benign.

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Reference-table entries

NOTCH3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:15295134
Cytoband: 19p13.12
HGVS: NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=)
Allele change: Synonymous_C846C

Associated conditions / phenotypes

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