Variant (rsID / SNP)

rs117169123

rs117169123 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH4A. Location: chromosome 6, position 116,949,359. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RSPH4ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:116949359
Cytoband: 6q22.1
HGVS: NM_001010892.3(RSPH4A):c.1489G>A (p.Val497Ile)
Allele change: Missense_V497I

Associated conditions / phenotypes

Primary ciliary dyskinesia|Primary ciliary dyskinesia 11

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.