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Variant (rsID / SNP)

rs201042940

CCDC40

rs201042940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC40. Location: chromosome 17, position 78,022,555. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CCDC40Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:78022555
Cytoband
17q25.3
HGVS
NM_017950.4(CCDC40):c.850G>C (p.Asp284His)
Allele change
Missense_D284H

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 15|Male infertility

Public references

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