All variants in the PLA2G6 gene

Information The variants shown are described using the NM_003560.2 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     
+/+ 4 c.470A>G r.(?) p.(H157R) - pathogenic g.38539251T>C g.38143244T>C - - PLA2G6_000029 - - - - Germline - - - 0 - Danielle Crompton
+/+ 4 c.470A>G r.(?) p.(H157R) - pathogenic g.38539251T>C g.38143244T>C - - PLA2G6_000040 - - - - Germline - - - 0 - Danielle Crompton
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