Variant (rsID / SNP)

rs140997181

rs140997181 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF2. Location: chromosome 14, position 50,092,386. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAAF2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:50092386
Cytoband: 14q21.3
HGVS: NM_018139.3(DNAAF2):c.2388C>T (p.His796=)
Allele change: Synonymous_H748H

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 10

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.