Full data view for gene ATP7B

Information The variants shown are described using the NM_000053.3 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, CF, deafness NA04364 PubMed: Bell 2011 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3419T>C r.(?) p.(Val1140Ala) Both (homozygous) - VUS g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B(NM_000053.3):c.3419T>C (p.V1140A), ATP7B(NM_000053.4):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B(NM_000053.3):c.3419T>C (p.V1140A), ATP7B(NM_000053.4):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B(NM_000053.3):c.3419T>C (p.V1140A), ATP7B(NM_000053.4):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B(NM_000053.3):c.3419T>C (p.V1140A), ATP7B(NM_000053.4):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B(NM_000053.3):c.3419T>C (p.V1140A), ATP7B(NM_000053.4):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B 13:51413355 (hg18) het CM044579 84.6% - ATP7B_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - 0 - DNA, RNA SEQ-NG blood - retinal disease NA01210 PubMed: Bell 2011 - ? - - - - 0 - - 1 LOVD
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B 13:51413355 (hg18) het CM044579 84.6% - ATP7B_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - 0 - DNA, RNA SEQ-NG blood - retinal disease NA01899 PubMed: Bell 2011 - ? - - - - 0 - - 1 LOVD
-/. - c.3419T>C r.(?) p.(Val1140Ala) Unknown - benign g.52515354A>G g.51941218A>G ATP7B 13:51413355 (hg18) het CM044579 84.6% - ATP7B_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - 0 - DNA, RNA SEQ-NG blood - retinal disease NA03575 PubMed: Bell 2011 - ? - - - - 0 - - 1 LOVD
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