Variant (rsID / SNP)

rs116185352

rs116185352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF2. Location: chromosome 14, position 50,101,724. Clinical significance in the table: Benign.

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Reference-table entries

DNAAF2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:50101724
Cytoband: 14q21.3
HGVS: NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys)
Allele change: Missense_N48K

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 10

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.