ClinVar Miner

Submissions for variant t(4;14)(q26;q12)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Cellular and Molecular Medicine,Copenhagen University 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.

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