Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Cellular and Molecular Medicine, |
RCV000605270 | SCV000576475 | pathogenic | Rett syndrome, congenital variant | 2014-01-01 | no assertion criteria provided | research | The total number of MPS read pairs passing the alignment score were 57,072,837. The translocation breakpoints were refined by a cluster of 24 BP-spanning reads to 9q22.31:94,269,066-94,269,642 and 14q12:29,738,715-29,739,465. The breakpoint on chromosome 9 does not truncate any gene or predicted regulatory domain. The breakpoint on the chromosome 14 truncates a highly conserved regulatory landscape 502kb downstream of FOXG1. |