Variant (rsID / SNP)

rs104893731

rs104893731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN16. Location: chromosome 3, position 190,122,557. Clinical significance in the table: Pathogenic.

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Reference-table entries

CLDN16Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:190122557
Cytoband: 3q28
HGVS: NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)
Allele change: Missense_L145P

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.