Variant (rsID / SNP)
rs9660973
rs9660973 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLDN19. Location: chromosome 1, position 43,201,614. Clinical significance in the table: Benign.
Reference-table entries
CLDN19Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:43201614
- Cytoband
- 1p34.2
- HGVS
- NM_148960.3(CLDN19):c.561G>A (p.Pro187=)
- Allele change
- Synonymous_P187P
Associated conditions / phenotypes
Renal hypomagnesemia 5 with ocular involvement
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.