Variant (rsID / SNP)

rs17283846

rs17283846 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDE1. Location: chromosome 16, position 15,790,607. Clinical significance in the table: Benign.

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Reference-table entries

NDE1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:15790607
Cytoband: 16p13.11
HGVS: NM_017668.3(NDE1):c.837C>T (p.Tyr279=)
Allele change: Synonymous_Y279Y

Associated conditions / phenotypes

Lissencephaly 4

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.