Variant (rsID / SNP)
rs1805152
rs1805152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLCNKA. Location: chromosome 1, position 16,356,501. The table records no clinical significance for this variant.
Reference-table entries
CLCNKANot classified
- Variant type
- missense_variant
- Chromosome / position
- 1:16356501
- HGVS
- NM_004070.4,c.1339G>A,p.Ala447Thr
- Allele change
- Missense_A447T
Associated conditions / phenotypes
Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.