Variant (rsID / SNP)

rs145602856

rs145602856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,308,221. 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: 17:72308221
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val)
Allele change: Missense_A525V

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.