Variant (rsID / SNP)

rs600753

rs600753 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF4. Location: chromosome 15, position 55,759,193. Clinical significance in the table: Benign.

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Reference-table entries

DNAAF4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:55759193
Cytoband: 15q21.3
HGVS: NM_130810.4(DNAAF4):c.572A>G (p.Glu191Gly)
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia 25

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.