Variant (rsID / SNP)

rs144106494

rs144106494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,698,506. Clinical significance in the table: Benign.

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Reference-table entries

DNAH11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:21698506
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser)
Allele change: Missense_P1729S

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.