Variant (rsID / SNP)

rs150079294

rs150079294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH4. Location: chromosome 6, position 32,180,684. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

NOTCH4Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:32180684
Cytoband: 6p21.32
HGVS: NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly)
Allele change: Silent

Associated conditions / phenotypes

Anophthalmia-microphthalmia 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.