Variant (rsID / SNP)

rs184555568

rs184555568 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF11. Location: chromosome 8, position 133,673,753. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAAF11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:133673753
Cytoband: 8q24.22
HGVS: NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln)
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia 19

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.