All variants in the PLN gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.26G>A r.(?) p.(Arg9His) - VUS g.118880110G>A g.118558947G>A NM_002667:c.G26A - PLN_000021 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+?/. - c.26G>A r.(?) p.(Arg9His) - likely pathogenic g.118880110G>A g.118558947G>A PLN(NM_002667.3):c.26G>A (p.R9H) - PLN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.26G>A r.(?) p.(Arg9His) - pathogenic g.118880110G>A g.118558947G>A PLN(NM_002667.3):c.26G>A (p.R9H) - PLN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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