Variant (rsID / SNP)

rs200918899

rs200918899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,714,007. Clinical significance in the table: Uncertain significance.

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Reference-table entries

C3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:6714007
Cytoband: 19p13.3
HGVS: NM_000064.4(C3):c.769G>A (p.Ala257Thr)
Allele change: Missense_A257T

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome with C3 anomaly

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.