Variant (rsID / SNP)
rs121964912
rs121964912 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFI. Location: chromosome 4, position 110,667,554. Clinical significance in the table: Pathogenic.
Reference-table entries
CFIPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:110667554
- Cytoband
- 4q25
- HGVS
- NM_000204.5(CFI):c.1253A>T (p.His418Leu)
- Allele change
- Missense_H426L
Associated conditions / phenotypes
Factor I deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.