Variant (rsID / SNP)

rs6510

rs6510 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAG1. Location: chromosome 8, position 101,252,829. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SPAG1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 8:101252829
Cytoband: 8q22.2
HGVS: NM_003114.5(SPAG1):c.2479C>T (p.His827Tyr)
Allele change: Missense_H827Y

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.