Variant (rsID / SNP)

rs104893721

rs104893721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN16. Location: chromosome 3, position 190,126,225. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLDN16Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:190126225
Cytoband: 3q28
HGVS: NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg)
Allele change: Missense_G239R

Associated conditions / phenotypes

Primary hypomagnesemia

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.