Variant (rsID / SNP)

rs41286844

rs41286844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C8B. Location: chromosome 1, position 57,406,638. Clinical significance in the table: Pathogenic.

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Reference-table entries

C8BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:57406638
Cytoband: 1p32.2
HGVS: NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
Allele change: Nonsense_R428X

Associated conditions / phenotypes

Type II complement component 8 deficiency|Complement component 6 deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.