Variant (rsID / SNP)

rs62642058

rs62642058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPGR. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RPGRNot classified

Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001034853.2(RPGR):c.994G>T (p.Glu332Ter)
Allele change: Nonsense_E332X

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.