Variant (rsID / SNP)

rs1060501460

rs1060501460 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,776,556. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNAH5Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Deletion
Chromosome / position: 5:13776556
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.9365del (p.Ala3121_Leu3122insTer)

Associated conditions / phenotypes

Primary ciliary dyskinesia|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.