Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Cellular and Molecular Medicine, |
RCV000601500 | SCV000576474 | 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 44,220,256. The translocation breakpoints were defined by a cluster of 19 BP-spanning reads to 4q26:114,869,960~114,871,254 and 14q12:29,630,531~29,631,032. The breakpoint on chromosome 4 truncates the ARSJ (arylsulfatase family, member J) gene, whereas the breakpoint on chromosome 14 was located 392kb downstream of FOXG1. |