Variant (rsID / SNP)

rs34000044

rs34000044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C9. Location: chromosome 5, position 39,342,214. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

C9Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:39342214
Cytoband: 5p13.1
HGVS: NM_001737.5(C9):c.162C>A (p.Cys54Ter)
Allele change: Nonsense_C54X

Associated conditions / phenotypes

Complement component 9 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.