Variant (rsID / SNP)

rs118204042

rs118204042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,938,111. Clinical significance in the table: Pathogenic.

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Reference-table entries

RSPH4APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:116938111
Cytoband: 6q22.1
HGVS: NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)
Allele change: Nonsense_Q109X

Associated conditions / phenotypes

Primary ciliary dyskinesia 11|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.