Variant (rsID / SNP)

rs138007679

rs138007679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RSPH1. Location: chromosome 21, position 43,897,478. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RSPH1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:43897478
Cytoband: 21q22.3
HGVS: NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)
Allele change: Missense_L217W

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.