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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37431-Gain | Arina Puzriakova commented on Region: ISCA-37431-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37431-Gain |
Arina Puzriakova GRCh38 position for ISCA-37431-Gain was changed from 30835804-31891648 to 30780079-31937008. Triplosensitivity Score for ISCA-37431-Gain was changed from 3 to 2. Required Overlap Percentage for ISCA-37431-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.443 | ISCA-37431-Gain |
Louise Daugherty Region: ISCA-37431-Gain was added Region: ISCA-37431-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37431-Gain were set to 25205021; 22241097; 18183042 Phenotypes for Region: ISCA-37431-Gain were set to early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism; Chromosome 17q11.2 deletion syndrome, 1.4Mb; DD/ID, facial dysmorphisms, and seizures |
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