Variant (rsID / SNP)

rs76147813

rs76147813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAAF11. Location: chromosome 8, position 133,634,908. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAAF11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:133634908
Cytoband: 8q24.22
HGVS: NM_012472.6(DNAAF11):c.863C>A (p.Pro288His)
Allele change: Silent

Associated conditions / phenotypes

Primary ciliary dyskinesia 19

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.