Variant (rsID / SNP)

rs752924362

rs752924362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,305,484. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNAI2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:72305484
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)
Allele change: Nonsense_W435X

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 9

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.