Variant (rsID / SNP)

rs142372794

rs142372794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH11. Location: chromosome 7, position 21,913,099. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNAH11Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:21913099
Cytoband: 7p15.3
HGVS: NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)
Allele change: Missense_A4059T

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 7

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.