IVS6+1G>A
· 4 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | IVS6+1G>A | “Genetic screening confirmed the presence of a MEN1 gene missense G to A mutation in the patient, her father, and her siblings at the splicing site of intron 6 (IVS6+1G>A).” | 0.82 | literature_variant_regex_v2 |
| variant | IVS6+1G>A | “The 2 patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene CYP27A1, OMIM 606530 located in the splice site of intron 6, where G was exchanged for A IVS6+1G>A.” | 0.82 | literature_variant_regex_v2 |
| variant | IVS6+1G>A | “2 alleles carried the frame shift mutation F305fs (-2) and the last two alleles had a novel splice site donor IVS6+1G>A mutation which was confirmed by its absence in more than 100 chromosomes from the normal population.” | 0.82 | literature_variant_regex_v2 |
| variant | IVS6+1G>A | “2 alleles carried the frame shift mutation F305fs (-2) and the last two alleles had a novel splice site donor IVS6+1G>A mutation which was confirmed by its absence in more than 100 chromosomes from the normal population.” | 0.82 | literature_variant_regex_v2 |