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| Gene | MLH1 |
| Variant | R9Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MLH1 R9Q lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). R9Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
MLH1 mutant MLH1 R9Q |
| Transcript | NM_000249.4 |
| gDNA | chr3:g.36993573G>A |
| cDNA | c.26G>A |
| Protein | p.R9Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001354630.1 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001354628.1 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001354629.1 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001354630.2 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001258271 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_000249.4 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_000249 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| XM_005265161.3 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001258271.2 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001354629.2 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_000249.3 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| XM_005265161 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001258271.1 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| XM_005265161.2 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| NM_001354628.2 | chr3:g.36993573G>A | c.26G>A | p.R9Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MLH1 R9Q | unknown |