Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000087307 | SCV000120185 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2006-10-01 | no assertion criteria provided | literature only | PMID:17079880 shows that this deletion is not a contiguous deletion, but two deleted segments that flank a portion of exon 8 and intron 8. The deletion does include the GALT promoter and is expected to result in loss of transcription. |