Variant (rsID / SNP)

rs62000409

rs62000409 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC40. Location: chromosome 17, position 78,032,436. Clinical significance in the table: Benign.

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Reference-table entries

CCDC40Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:78032436
Cytoband: 17q25.3
HGVS: NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)
Allele change: Missense_E435K

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 15

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.