Variant (rsID / SNP)

rs1123418

rs1123418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDE1. Location: chromosome 16, position 15,788,062. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NDE1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:15788062
Cytoband: 16p13.11
HGVS: NM_017668.3(NDE1):c.744G>A (p.Ala248=)
Allele change: Synonymous_A248A

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.