Variant (rsID / SNP)

rs397515621

rs397515621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF4. Location: chromosome 15, position 55,731,755. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNAAF4Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:55731755
Cytoband: 15q21.3
HGVS: NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia 25|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.