All variants in the PLA2G6 gene

Information The variants shown are described using the NM_003560.2 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     
+/. - c.1077G>A r.1074_1077del p.Met358Ilefs*7 - pathogenic g.38528838C>T g.38132831C>T - - PLA2G6_000099 - - - - Germline yes - - 0 - Wenjuan Qiu
+/. 7 c.1077G>A r.spl p.? - pathogenic g.38528838C>T g.38132831C>T - - PLA2G6_000099 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.1077G>A r.spl p.? - pathogenic g.38528838C>T g.38132831C>T - - PLA2G6_000099 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
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