Variant (rsID / SNP)

rs79833450

rs79833450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,513,163. 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: 9:34513163
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
Allele change: Missense_G519S

Associated conditions / phenotypes

Kartagener syndrome|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.