Variant (rsID / SNP)
rs121965070
rs121965070 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to F11. Location: chromosome 4, position 187,201,219. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
F11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:187201219
- Cytoband
- 4q35.2
- HGVS
- NM_000128.4(F11):c.809A>T (p.Lys270Ile)
- Allele change
- Missense_K270I
Associated conditions / phenotypes
Hereditary factor XI deficiency disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.