Variant (rsID / SNP)

rs140386513

rs140386513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF1. Location: chromosome 16, position 84,183,898. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAAF1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:84183898
Cytoband: 16q24.1
HGVS: NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn)
Allele change: Missense_K101N

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.