Variant (rsID / SNP)

rs117927481

rs117927481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC65. Location: chromosome 12, position 49,315,200. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CCDC65Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:49315200
Cytoband: 12q13.12
HGVS: NM_033124.5(CCDC65):c.1429G>A (p.Gly477Ser)
Allele change: Missense_G334S

Associated conditions / phenotypes

Primary ciliary dyskinesia 27

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.