Variant (rsID / SNP)

rs142345677

rs142345677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF1. Location: chromosome 16, position 84,209,590. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAAF1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:84209590
Cytoband: 16q24.1
HGVS: NM_178452.6(DNAAF1):c.1750G>A (p.Asp584Asn)
Allele change: Missense_D584N

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 13

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.