ClinVar Miner

Submissions for variant NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) 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.

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