Full data view for gene PLAG1

Information The variants shown are described using the NM_002655.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 5 c.439del r.(?) p.(Ser147Valfs*82) Unknown - pathogenic g.57079867del g.56167308del - - PLAG1_000001 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES SRS;RSS 28796236-FamPatI2 PubMed: Abi Habib 2017, for EUCID-SRS consortium 2-generation family, 3 affecteds, mother PatI2 F - - - - 0 - - 3 Zeynep Tümer
+/. 5 c.439del r.(?) p.(Ser147Valfs*82) Maternal (confirmed) - pathogenic g.57079867del g.56167308del - - PLAG1_000001 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - Germline - - - 0 - DNA SEQ - - SRS;RSS 28796236-FamPatII1 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - 1 Zeynep Tümer
+/. 5 c.439del r.(?) p.(Ser147Valfs*82) Maternal (confirmed) - pathogenic g.57079867del g.56167308del - - PLAG1_000001 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - Germline - - - 0 - DNA SEQ - - SRS;RSS 28796236-PatII2 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - 0 - - 1 Zeynep Tümer
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