Variant (rsID / SNP)

rs146136398

rs146136398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF11. Location: chromosome 8, position 133,645,167. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAAF11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:133645167
Cytoband: 8q24.22
HGVS: NM_012472.6(DNAAF11):c.472G>T (p.Ala158Ser)
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.