Variant (rsID / SNP)

rs148707462

rs148707462 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,939,017. Clinical significance in the table: Likely benign.

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Reference-table entries

DNAH11Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 7:21939017
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.13113G>A (p.Pro4371=)
Allele change: Synonymous_P4371P

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.