Variant (rsID / SNP)

rs74604638

rs74604638 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,817,726. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAH5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:13817726
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile)
Allele change: Missense_V2307I

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.