Variant (rsID / SNP)

rs149631064

rs149631064 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF11. Location: chromosome 8, position 133,584,710. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAAF11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 8:133584710
Cytoband: 8q24.22
HGVS: NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=)
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.