Variant (rsID / SNP)

rs79327004

rs79327004 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,938,461. 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: 6:116938461
Cytoband: 6q22.1
HGVS: NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=)
Allele change: Synonymous_S225S

Associated conditions / phenotypes

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.