Variant (rsID / SNP)

rs188638970

rs188638970 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNAH5. Location: chromosome 5, position 13,883,166. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DNAH5Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:13883166
Cytoband: 5p15.2
HGVS: NM_001369.3(DNAH5):c.3021G>T (p.Leu1007Phe)
Allele change: Missense_L1007F

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 3

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.