Variant (rsID / SNP)

rs143740376

rs143740376 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFAP298. Location: chromosome 21, position 33,982,163. Clinical significance in the table: Pathogenic.

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Reference-table entries

CFAP298Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:33982163
Cytoband: 21q22.11
HGVS: NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia 26|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.