All variants in the PLA2G6 gene

Information The variants shown are described using the NM_003560.2 transcript reference sequence.

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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     
+/+ 11 c.1538_1541del r.(?) p.(Asp513GlyfsTer31) - pathogenic g.38519154_38519157del g.38123147_38123150del - - PLA2G6_000018 - - - - Germline - - - 0 - Danielle Crompton
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