Variant (rsID / SNP)

rs117203086

rs117203086 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC40. Location: chromosome 17, position 78,059,821. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CCDC40Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:78059821
Cytoband: 17q25.3
HGVS: NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)
Allele change: Missense_L752P

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.