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Variant (rsID / SNP)

rs140660854

RSPH4A

rs140660854 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,953,554. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RSPH4AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:116953554
Cytoband
6q22.1
HGVS
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln)
Allele change
Missense_E701Q

Associated conditions / phenotypes

Primary ciliary dyskinesia 11|Primary ciliary dyskinesia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.