Variant (rsID / SNP)

rs2279122

rs2279122 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,308,219. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAI2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:72308219
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.1572G>A (p.Lys524=)
Allele change: Synonymous_K524K

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.