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Variant (rsID / SNP)

rs141873943

DNAL1

rs141873943 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAL1. Location: chromosome 14, position 74,156,101. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:74156101
Cytoband
14q24.3
HGVS
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)
Allele change
Missense_L139V

Associated conditions / phenotypes

Primary ciliary dyskinesia 16

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.