Variant (rsID / SNP)
rs5252
rs5252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKB. Location: chromosome 1, position 16,378,215. Clinical significance in the table: Benign.
Reference-table entries
CLCNKBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:16378215
- Cytoband
- 1p36.13
- HGVS
- NM_000085.5(CLCNKB):c.1308C>T (p.Ile436=)
- Allele change
- Synonymous_I436I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.