Variant (rsID / SNP)

rs140820295

rs140820295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,517,412. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAI1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:34517412
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)
Allele change: Missense_R654C

Associated conditions / phenotypes

Primary ciliary dyskinesia|Kartagener syndrome|Infertility|Male infertility

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.