All variants in the PLCE1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.1495C>T r.(?) p.(Arg499Cys) - benign g.95930939C>T g.94171182C>T PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T g.94171182C>T - - PLCE1_000009 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61751493 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.1495C>T r.(?) p.(Arg499Cys) - VUS g.95930939C>T - PLCE1(NM_001165979.1):c.571C>T (p.(Arg191Cys)), PLCE1(NM_016341.3):c.1495C>T (p.R499C) - PLCE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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