Variant (rsID / SNP)

rs199726930

rs199726930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,301,500. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAI2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:72301500
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.1130C>A (p.Pro377Gln)
Allele change: Missense_P377Q

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.