Variant (rsID / SNP)
rs16991866
rs16991866 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FERMT1. Location: chromosome 20, position 6,093,177. Clinical significance in the table: Benign.
Reference-table entries
FERMT1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:6093177
- Cytoband
- 20p12.3
- HGVS
- NM_017671.5(FERMT1):c.479T>C (p.Ile160Thr)
- Allele change
- Missense_I160T
Associated conditions / phenotypes
Kindler syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.