Full data view for gene JAG2

Information The variants shown are described using the NM_002226.4 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.2515G>A r.(?) p.(Gly839Arg) Parent #1 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US1PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII3 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected (2F, M) F no Poland - - 0 - - 3 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no Poland - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Both (homozygous) - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD POLPatII5 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no Poland - - 0 - - 1 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Parent #2 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F no United States - - 0 - - 2 LOVD
+/. - c.2515G>A r.(?) p.(Gly839Arg) Parent #2 - pathogenic (recessive) g.105613026C>T g.105146689C>T - - JAG2_000007 - PubMed: Coppens 2021, Journal: Coppens 2021 - - Germline - - - 0 - DNA SEQ-NG - WES MD US2PatII3 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no United States - - 0 - - 1 LOVD
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