Variant (rsID / SNP)
rs104893729
rs104893729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN16. Location: chromosome 3, position 190,122,576. Clinical significance in the table: Pathogenic.
Reference-table entries
CLDN16Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:190122576
- Cytoband
- 3q28
- HGVS
- NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)
- Allele change
- Missense_L151F
Associated conditions / phenotypes
Primary hypomagnesemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.