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Variant (rsID / SNP)

rs35366573

CD46

rs35366573 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CD46. Location: chromosome 1, position 207,958,446. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CD46Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:207958446
Cytoband
1q32.2
HGVS
NM_172351.3(CD46):c.1013C>T (p.Ala338Val)
Allele change
Missense_A309V

Associated conditions / phenotypes

Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly|Myofibrillar myopathy 6

Public references

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