Variant (rsID / SNP)

rs140498500

rs140498500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,701,417. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAH5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:13701417
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.13467G>A (p.Gln4489=)
Allele change: Synonymous_Q4489Q

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 3

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.