All variants in the PLN gene

Information The variants shown are described using the NM_002667.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
?/. 2 c.152T>C r.(?) p.(Leu51Pro) - VUS g.118880236T>C g.118559073T>C NM_002667:c.T152C - PLN_000022 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
?/. - c.152T>C r.(?) p.(Leu51Pro) - VUS g.118880236T>C g.118559073T>C - - PLN_000022 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/632 cases - - - Johan den Dunnen
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