Variant (rsID / SNP)

rs751163782

rs751163782 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAB28. Location: chromosome 4, position 13,371,512. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAB28Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 4:13371512
Cytoband: 4p15.33
HGVS: NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)
Allele change: Silent

Associated conditions / phenotypes

Cone-rod dystrophy 18

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.