Variant (rsID / SNP)

rs12088790

rs12088790 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LAD1. Location: chromosome 1, position 201,355,761. The table records no clinical significance for this variant.

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Reference-table entries

LAD1Not classified

Variant type: missense_variant
Chromosome / position: 1:201355761
HGVS: NM_005558.4,c.728T>C,p.Leu243Pro
Allele change: Missense_L243P

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.