Variant (rsID / SNP)

rs138503542

rs138503542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAG1. Location: chromosome 8, position 101,203,662. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPAG1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:101203662
Cytoband: 8q22.2
HGVS: NM_003114.5(SPAG1):c.877C>T (p.Arg293Trp)
Allele change: Missense_R293W

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.