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BLOC1S1-RDH5

Chr 12

BLOC1S1-RDH5 readthrough

This locus represents naturally occurring read-through transcription between the neighboring BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) and RDH5 (retinol dehydrogenase 5, 11-cis/9-cis) genes on chromosome 12. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…
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Active trials
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Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/BLOC1S1-RDH5?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

BLOC1S1-RDH5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

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