Variant (rsID / SNP)

rs62638645

rs62638645 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.

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Reference-table entries

RPGRNot classified

Variant type: single nucleotide variant
Cytoband: Xp11.4
HGVS: NM_001034853.2(RPGR):c.415G>T (p.Glu139Ter)
Allele change: Nonsense_E139X

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.