Variant (rsID / SNP)

rs187023993

rs187023993 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,820,565. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DNAH5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:13820565
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.6731A>T (p.Lys2244Met)
Allele change: Missense_K2244M

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.