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| Gene | MSH6 |
| Variant | T1085fs |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | MSH6 T1085fs results in a change in the amino acid sequence of the Msh6 protein beginning at aa 1085 of 1360, likely resulting in premature truncation of the functional protein (UniProt.org). T1085fs is associated with loss of Msh6 expression in a patient sample (PMID: 40625767), but has not been fully biochemically characterized and therefore, its effect on Msh6 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
MSH6 mutant MSH6 T1085fs |
| Transcript | NM_000179.3 |
| gDNA | chr2:g.(47803499_47803500) |
| cDNA | c.(3253_3252) |
| Protein | p.T1085fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406800.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_001406796.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_001406808.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_000179.2 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| XM_024452819.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_001406809.1 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_000179.3 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| NM_000179 | chr2:g.(47803499_47803500) | c.(3253_3252) | p.T1085fs | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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