Variant (rsID / SNP)

rs78865254

rs78865254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAI1. Location: chromosome 9, position 34,491,510. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAI1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:34491510
Cytoband: 9p13.3
HGVS: NM_012144.4(DNAI1):c.639G>A (p.Thr213=)
Allele change: Synonymous_T217T

Associated conditions / phenotypes

Primary ciliary dyskinesia|Kartagener syndrome

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.