Variant (rsID / SNP)

rs104893788

rs104893788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHO. Location: chromosome 3, position 129,247,917. Clinical significance in the table: Pathogenic.

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Reference-table entries

RHOPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:129247917
Cytoband: 3q22.1
HGVS: NM_000539.3(RHO):c.341G>A (p.Gly114Asp)
Allele change: Missense_G114D

Associated conditions / phenotypes

Retinitis pigmentosa 4

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.