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Heavy data lifting in progress
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RecQ mediated genome instability 1
Also known as: BLAP75, C9orf76, FAAP75
Predicted to enable nucleotide binding activity. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in nuclear body. Part of RecQ family helicase-topoisomerase III complex. [provided by Alliance of Genome Resources, Jul 2025]
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
119 submitted variants in ClinVar
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 1 | 0 | 4 | 0 | 5 |
VUS | 1 | 62 | 2 | 0 | 65 |
Likely Benign | 0 | 14 | 0 | 0 | 14 |
Benign | 0 | 4 | 0 | 2 | 6 |
| Total | 2 | 80 | 29 | 2 | 113 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →RMI1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
RMI1-related Bloom syndrome like disorder
limitedGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
1 OMIM entry
Links to major genomics databases and tools
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Links to major genomics databases and tools