Variant (rsID / SNP)

rs1678729

rs1678729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH8. Location: chromosome 6, position 38,800,209. 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: 6:38800209
Cytoband: 6p21.2
HGVS: NM_001206927.2(DNAH8):c.4300T>C (p.Leu1434=)
Allele change: Synonymous_L1217L

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.