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Variant (rsID / SNP)

rs104893791

RHO

rs104893791 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHO. Location: chromosome 3, position 129,249,805. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RHOPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:129249805
Cytoband
3q22.1
HGVS
NM_000539.3(RHO):c.448G>A (p.Glu150Lys)
Allele change
Missense_E150K

Associated conditions / phenotypes

Retinitis pigmentosa 4, autosomal recessive|Retinitis pigmentosa 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.