Variant (rsID / SNP)
rs199988476
rs199988476 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC34A1, F12. Location: chromosome 5, position 176,829,461. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SLC34A1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:176829461
- Cytoband
- 5q35.3
- HGVS
- NM_000505.4(F12):c.1681-1G>A
- Allele change
- Silent
Associated conditions / phenotypes
Factor XII deficiency disease|Nephrolithiasis/osteoporosis, hypophosphatemic|F12-Related Disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.