Variant (rsID / SNP)

rs146462823

rs146462823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,285,729. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAI2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 17:72285729
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.468-4G>T
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 9

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.