Variant (rsID / SNP)

rs200639282

rs200639282 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN1. Location: chromosome 3, position 190,026,209. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CLDN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:190026209
Cytoband: 3q28
HGVS: NM_021101.5(CLDN1):c.493C>G (p.Leu165Val)
Allele change: Missense_L165V

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.