Variant (rsID / SNP)

rs139935771

rs139935771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,301,558. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAI2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:72301558
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.1188G>A (p.Arg396=)
Allele change: Synonymous_R396R

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.