Full data view for gene PLCE1

Information The variants shown are described using the NM_016341.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1477C>T r.(?) p.(Arg493Ter) Unknown - pathogenic g.95892201C>T g.94132444C>T - - PLCE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1477C>T r.(?) p.(Arg493*) Both (homozygous) - pathogenic g.95892201C>T g.94132444C>T NM_001165979.1:c.553C>T - PLCE1_000029 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ - WGS ? 28771251-Pat1 PubMed: Lionel 2018 - F - Canada - - 0 - - 1 Johan den Dunnen
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