Variant (rsID / SNP)

rs769284314

rs769284314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,506,868. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNAI1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:34506868
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)
Allele change: Nonsense_W440X

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.