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Variant (rsID / SNP)

rs371491165

NOTCH3

rs371491165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH3. Location: chromosome 19, position 15,302,999. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NOTCH3Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
19:15302999
Cytoband
19p13.12
HGVS
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
Allele change
Missense_Q151E

Associated conditions / phenotypes

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|Lateral meningocele syndrome|Myofibromatosis, infantile, 2

Public references

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