Variant (rsID / SNP)

rs113374052

rs113374052 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF5. Location: chromosome 7, position 780,999. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAAF5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:780999
Cytoband: 7p22.3
HGVS: NM_017802.4(DNAAF5):c.921C>A (p.Ser307Arg)
Allele change: Missense_S307R

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.