Variant (rsID / SNP)

rs147372600

rs147372600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,776,677. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAH5Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 5:13776677
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)
Allele change: Missense_L3082I

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.