Variant (rsID / SNP)

rs140326154

rs140326154 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,295,886. 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: 17:72295886
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.754G>A (p.Val252Met)
Allele change: Missense_V252M

Associated conditions / phenotypes

Primary ciliary dyskinesia 9|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.