Variant (rsID / SNP)
rs142881576
rs142881576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C6. Location: chromosome 5, position 41,159,254. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
C6Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:41159254
- Cytoband
- 5p13.1
- HGVS
- NM_000065.5(C6):c.1786C>T (p.Arg596Ter)
- Allele change
- Nonsense_R596X
Associated conditions / phenotypes
Complement component 6 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.