Variant (rsID / SNP)

rs201114289

rs201114289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,817,789. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAH5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:13817789
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.6856C>T (p.His2286Tyr)
Allele change: Missense_H2286Y

Associated conditions / phenotypes

Primary ciliary dyskinesia 3

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.