Variant (rsID / SNP)
rs4128458
rs4128458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAD1. Location: chromosome 1, position 201,355,522. The table records no clinical significance for this variant.
Reference-table entries
LAD1Not classified
- Variant type
- missense_variant
- Chromosome / position
- 1:201355522
- HGVS
- NM_005558.4,c.967A>G,p.Lys323Glu
- Allele change
- Missense_K323E
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
