Variant (rsID / SNP)

rs61748600

rs61748600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH8. Location: chromosome 6, position 38,729,511. 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: 6:38729511
Cytoband: 6p21.2
HGVS: NM_001206927.2(DNAH8):c.1549T>C (p.Tyr517His)
Allele change: Missense_Y300H

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.