Variant (rsID / SNP)

rs45519938

rs45519938 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH8. Location: chromosome 6, position 38,820,493. Clinical significance in the table: Benign.

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Reference-table entries

DNAH8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:38820493
Cytoband: 6p21.2
HGVS: NM_001206927.2(DNAH8):c.5490C>A (p.Asp1830Glu)
Allele change: Missense_D1613E

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.