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Variant (rsID / SNP)

rs79412180

RSPH9

rs79412180 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH9. Location: chromosome 6, position 43,638,674. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RSPH9Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:43638674
Cytoband
6p21.1
HGVS
NM_152732.5(RSPH9):c.819C>T (p.Pro273_Phe274=)
Allele change
Missense_L291F

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 12

Public references

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