Variant (rsID / SNP)
rs121913058
rs121913058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFH. Location: chromosome 1, position 196,645,148. Clinical significance in the table: Pathogenic.
Reference-table entries
CFHPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:196645148
- Cytoband
- 1q31.3
- HGVS
- NM_000186.4(CFH):c.380G>T (p.Arg127Leu)
- Allele change
- Missense_R127L
Associated conditions / phenotypes
Factor H deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.