Variant (rsID / SNP)

rs199515118

rs199515118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAG1. Location: chromosome 8, position 101,203,687. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPAG1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 8:101203687
Cytoband: 8q22.2
HGVS: NM_003114.5(SPAG1):c.902A>G (p.Lys301Arg)
Allele change: Missense_K301R

Associated conditions / phenotypes

Primary ciliary dyskinesia 28

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.