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| Spontaneous coronary artery dissection v0.30 | TSR1 | Ain Roesley Marked gene: TSR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.30 | TSR1 | Ain Roesley Gene: tsr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Spontaneous coronary artery dissection v0.30 | TSR1 |
Ain Roesley gene: TSR1 was added gene: TSR1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: TSR1 was set to Unknown Publications for gene: TSR1 were set to PMID: 31296288; 31296287; 37979122 Review for gene: TSR1 was set to RED gene: TSR1 was marked as current diagnostic Added comment: PMID: 37979122; listed as "likely monogenic disease effect" PMID: 31296287 was cited by paper above. SCAD cohort with WES performed and 'rare' variants filtered for. However, the variants have the following het counts in gnomad v4 Arg772Gln 27 hets 0 homs Arg622Cys 45 hets 0 homs Arg497Gln 7125 hets 33 homs Trp556* absent Arg499Pro absent M1fs absent PMID: 31296288 reviews PMID: 31296287 this gene is NOT constraint for LoF in gnomad v4 with 81 hets having an NMD nonsense hets Sources: Literature |
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