Variant (rsID / SNP)
rs3752472
rs3752472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KL. Location: chromosome 13, position 33,629,393. Clinical significance in the table: Benign.
Reference-table entries
KLBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:33629393
- Cytoband
- 13q13.1
- HGVS
- NM_004795.4(KL):c.1540C>T (p.Pro514Ser)
- Allele change
- Missense_P514S
Associated conditions / phenotypes
Tumoral calcinosis, hyperphosphatemic, familial, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.