Variant (rsID / SNP)

rs4714192

rs4714192 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH8. Location: chromosome 6, position 38,851,669. 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: 6:38851669
Cytoband: 6p21.2
HGVS: NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=)
Allele change: Synonymous_Y2501Y

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.