Genetic variant
rs138831590 a variant in the RHO gene
rs138831590 is a single-letter difference in the RHO gene, on chromosome 3. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Congenital stationary night blindness autosomal dominant 1 and Retinitis pigmentosa, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs138831590 is the catalogue number of one of them, in the RHO gene. Which letters you carry there — one copy from each parent — is your genotype.
RHO (rhodopsin): The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Congenital stationary night blindness autosomal dominant 1
- Retinitis pigmentosa
- RHO-related disorder
- Retinal dystrophy
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs138831590, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs138831590
- Gene
- RHO
- Position (GRCh38)
- chr3:129533629
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- Conflicting classifications of pathogenicity
How common the less frequent letter is
- gnomAD ALL
- 0%
- 1kG AFR
- 100%
- 1kG ALL
- 100%
- 1kG AMR
- 100%
- 1kG EAS
- 100%
- 1kG EUR
- 99.9%
- 1kG SAS
- 100%
Sources
- dbSNP: rs138831590 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: RHO
- Ensembl: RHO