Variant (rsID / SNP)

rs62640590

rs62640590 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGR. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RPGRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001034853.2(RPGR):c.905G>A (p.Cys302Tyr)
Allele change: Missense_C302S

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.