Full data view for gene ATP7B

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

11 entries on 1 page. Showing entries 1 - 11.
Legend  

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.3620A>G r.(?) p.(His1207Arg) Unknown - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3620A>G r.(?) p.(His1207Arg) Unknown - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.3620A>G r.(?) p.(His1207Arg) Unknown - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3620A>G r.(?) p.(His1207Arg) Unknown - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.3620A>G r.(?) p.(His1207Arg) Unknown - VUS g.52513266T>C g.51939130T>C - - ATP7B_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.3620A>G r.(?) p.(His1207Arg) Unknown - benign g.52513266T>C g.51939130T>C ATP7B(NM_000053.3):c.3620A>G (p.H1207R) - ATP7B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3620A>G r.(?) p.(His1207Arg) Unknown - benign g.52513266T>C g.51939130T>C ATP7B(NM_000053.3):c.3620A>G (p.H1207R) - ATP7B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3620A>G r.(?) p.(His1207Arg) Unknown - likely benign g.52513266T>C g.51939130T>C ATP7B(NM_000053.3):c.3620A>G (p.H1207R) - ATP7B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3620A>G r.(?) p.(His1207Arg) Unknown - likely benign g.52513266T>C g.51939130T>C ATP7B(NM_000053.3):c.3620A>G (p.H1207R) - ATP7B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3620A>G r.(?) p.(His1207Arg) Parent #1 - likely benign g.52513266T>C g.51939130T>C - - ATP7B_000002 68 heterozygous; Clinindb (India) Faruq 2020, submtted - rs7334118 Germline - 68/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 68 Mohammed Faruq
-?/. - c.3620A>G r.(?) p.(His1207Arg) Both (homozygous) - likely benign g.52513266T>C g.51939130T>C - - ATP7B_000002 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs7334118 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
Legend