| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;G)
|
3
|
Unaffected carrier of a Wilson disease mutation
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
3
|
Unaffected carrier of a Wilson disease mutation
|
Two pathogenic mutations are reported in ClinVar for ATP7B gene SNP rs137853280: c.1708-1G>A and c.1708-1G>C.
Note that Ancestry data always reports (incorrectly) rs137853280 as "GG" (on the forward strand) for all of its customers. Since no other DTC company returns data for rs137853280, SNPedia has been edited to indicate rs13785320(C;C) as a common/normal genotype, even though technically it should represent the minor homozygote and an affected individual predicted to develop Wilson's disease. The editing of the SNPedia entry allows Promethease to correctly indicate to Ancestry users that they are predicted to carry the common/normal genotype, despite the error in Ancestry raw data.
[PMID 7626145] The Wilson disease gene: spectrum of mutations and their consequences.
[PMID 11060541] Severe hepatic Wilson's disease in preschool-aged children.
[PMID 18760268] Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
[PMID 18841564] [Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].
