Full data view for gene ATP7B

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

89 entries on 1 page. Showing entries 1 - 89.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 JPT/HANā€HapMap sample F - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Unknown g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
./. - c.3419T>C - r.(?) p.(Val1140Ala) Both (homozygous) g.52515354A>G g.51941218A>G - - ATP7B_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.3419T>C benign r.(?) p.(Val1140Ala) Unknown g.52515354A>G - ATP7B(NM_000053.3):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C benign r.(?) p.(Val1140Ala) Unknown g.52515354A>G - ATP7B(NM_000053.3):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C benign r.(?) p.(Val1140Ala) Unknown g.52515354A>G - ATP7B(NM_000053.3):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C benign r.(?) p.(Val1140Ala) Unknown g.52515354A>G - ATP7B(NM_000053.3):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3419T>C benign r.(?) p.(Val1140Ala) Unknown g.52515354A>G - ATP7B(NM_000053.3):c.3419T>C (p.V1140A) - ATP7B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend