Full data view for gene PIK3CA

This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_006218.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - VUS g.178952085A>G g.179234297A>G - - PIK3CA_000002 - - - - Somatic - - - - - DNA SEQ-NG-I - - cancer, ovarian - - - - - - European, white - - - - 1 Phil Chambers
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Soblet 2013 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Soblet 2013 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Soblet 2013 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/+ 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic (dominant) g.178952085A>G g.179234297A>G g.90775A>G - PIK3CA_000002 - PubMed: Limaye 2015 - - Somatic - - - - - DNA SEQ-NG - - malformation, venous, unifocal, sporadic - PubMed: Limaye 2015 - - - - - - - - - 1 Antonella Mendola
+/. - c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic g.178952085A>G g.179234297A>G PIK3CA(NM_006218.4):c.3140A>G (p.H1047R) - PIK3CA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic g.178952085A>G g.179234297A>G - - PIK3CA_000002 - - - - Somatic ? - - - - DNA SEQ-NG - WES cancer, gastric - - - F ? - - - - - - 1 Richarda de Voer
+/. - c.3140A>G r.(?) p.(His1047Arg) Unknown ACMG pathogenic (recessive) g.178952085A>G g.179234297A>G - - PIK3CA_000002 ACMG PS3, PM1, PM2, PM5, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs121913279 Somatic - - - - - DNA SEQ, SEQ-NG skin biopsy of overgrowth tissue clinical exome sequencing ? 9074 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic g.178952085A>G - PIK3CA(NM_006218.4):c.3140A>G (p.H1047R) - PIK3CA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3140A>G r.(?) p.(His1047Arg) Unknown - pathogenic g.178952085A>G - - - PIK3CA_000002 - - - rs121913279 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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