Variant (rsID / SNP)

rs864622512

rs864622512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,862,847. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNAH5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 5:13862847
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.4605dup (p.Ile1536fs)

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.