Submissions for variant NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]
Submitter |
RCV |
SCV |
Clinical significance |
Condition |
Last evaluated |
Review status |
Method |
Comment |
Biologia e Medicina Molecolare, Sapienza University of Rome |
RCV000504595 |
SCV000598621 |
pathogenic |
Wilson disease |
2017-08-30 |
criteria provided, single submitter |
research |
Multiple affected and carrier patients in one pedigree with mentioned mutations which confirmed by segregation analysis and patients have hepatic and neurologic manifestations. |
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