Variant (rsID / SNP)

rs148916596

rs148916596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,641,129. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNAH11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:21641129
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.3541A>G (p.Ser1181Gly)
Allele change: Missense_S1181G

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.