Variant (rsID / SNP)

rs17144788

rs17144788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,654,825. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAH11Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:21654825
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val)
Allele change: Missense_M1316V

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.