Variant (rsID / SNP)

rs141079076

rs141079076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI2. Location: chromosome 17, position 72,295,986. 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: 17:72295986
Cytoband: 17q25.1
HGVS: NM_023036.6(DNAI2):c.854C>T (p.Thr285Met)
Allele change: Missense_T285M

Associated conditions / phenotypes

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.