Variant (rsID / SNP)

rs16931555

rs16931555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,500,796. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAI1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:34500796
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.978A>C (p.Gln326His)
Allele change: Missense_Q330H

Associated conditions / phenotypes

Primary ciliary dyskinesia|Kartagener syndrome

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.