Variant (rsID / SNP)
rs556734208
rs556734208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KLK4. Location: chromosome 19, position 51,410,323. Clinical significance in the table: Pathogenic.
Reference-table entries
KLK4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:51410323
- Cytoband
- 19q13.41
- HGVS
- NM_004917.5(KLK4):c.632del (p.Leu211fs)
Associated conditions / phenotypes
Amelogenesis imperfecta type 2A1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.