Variant (rsID / SNP)

rs121964921

rs121964921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C7. Location: chromosome 5, position 40,955,530. Clinical significance in the table: Pathogenic.

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Reference-table entries

C7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:40955530
Cytoband: 5p13.1
HGVS: NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
Allele change: Missense_G379R

Associated conditions / phenotypes

Complement component 7 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.