Variant (rsID / SNP)
rs16958350
rs16958350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NALCN. Location: chromosome 13, position 101,757,011. Clinical significance in the table: Benign.
Reference-table entries
NALCNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:101757011
- Cytoband
- 13q33.1
- HGVS
- NM_052867.4(NALCN):c.2637-10T>G
- Allele change
- Silent
Associated conditions / phenotypes
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.