Variant (rsID / SNP)

rs143045012

rs143045012 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF5. Location: chromosome 7, position 780,462. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAAF5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:780462
Cytoband: 7p22.3
HGVS: NM_017802.4(DNAAF5):c.787C>T (p.Arg263Trp)
Allele change: Missense_R263W

Associated conditions / phenotypes

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.