Variant (rsID / SNP)

rs201998366

rs201998366 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF5. Location: chromosome 7, position 794,264. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAAF5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:794264
Cytoband: 7p22.3
HGVS: NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly)
Allele change: Missense_R355G

Associated conditions / phenotypes

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.