Variant (rsID / SNP)

rs104893774

rs104893774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHO. Location: chromosome 3, position 129,249,761. 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: 3:129249761
Cytoband: 3q22.1
HGVS: NM_000539.3(RHO):c.404G>T (p.Arg135Leu)
Allele change: Missense_R135L

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.