Variant (rsID / SNP)
rs76202909
rs76202909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C6. Location: chromosome 5, position 41,150,035. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
C6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:41150035
- Cytoband
- 5p13.1
- HGVS
- NM_000065.5(C6):c.2381+2T>C
- Allele change
- Silent
Associated conditions / phenotypes
C6 deficiency, subtotal|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.