Variant (rsID / SNP)

rs12204826

rs12204826 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH3. Location: chromosome 6, position 159,398,803. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RSPH3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:159398803
Cytoband: 6q25.3
HGVS: NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys)
Allele change: Missense_E484K

Associated conditions / phenotypes

Primary ciliary dyskinesia 32

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.