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Variant (rsID / SNP)

rs141737564

C3

rs141737564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C3. Location: chromosome 19, position 6,712,596. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

C3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:6712596
Cytoband
19p13.3
HGVS
NM_000064.4(C3):c.1042A>G (p.Ile348Val)
Allele change
Missense_I348V

Associated conditions / phenotypes

Complement component 3 deficiency|Age related macular degeneration 9|Atypical hemolytic-uremic syndrome with C3 anomaly

Public references

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