Variant (rsID / SNP)
rs6080717
rs6080717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BFSP1. Location: chromosome 20, position 17,474,791. Clinical significance in the table: Benign.
Reference-table entries
BFSP1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:17474791
- Cytoband
- 20p12.1
- HGVS
- NM_001195.5(BFSP1):c.1926C>T (p.Thr642=)
- Allele change
- Synonymous_T517T
Associated conditions / phenotypes
Cataract 33
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.