Variant (rsID / SNP)

rs149640178

rs149640178 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CCDC65. Location: chromosome 12, position 49,312,128. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CCDC65Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:49312128
Cytoband: 12q13.12
HGVS: NM_033124.5(CCDC65):c.680A>G (p.Gln227Arg)
Allele change: Missense_Q84R

Associated conditions / phenotypes

Primary ciliary dyskinesia 27|Primary ciliary dyskinesia

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.