Full data view for gene PGAP3

Information The variants shown are described using the NM_033419.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Paternal (confirmed) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Knaus et al. 2016 - - Germline - - - 0 - DNA, RNA SEQ-NG fibroblasts or blood exome sequencing HPMRS1;GPIBD2 B-II-2 PubMed: Knaus 2016 - F no - German - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_1 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_2 PubMed: Abdel-Hamid 2017 - F yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_3 PubMed: Abdel-Hamid 2017 - F yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_4 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_6 PubMed: Abdel-Hamid 2017 - F no Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_7 PubMed: Abdel-Hamid 2017 cousin with Patient_8 M yes Egypt - - 0 - - 2 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_8 PubMed: Abdel-Hamid 2017 cousin with Patient_7 F no Egypt - - 0 - - 1 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_9 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 2 Philippe Campeau
+?/. - c.402dup r.(?) p.(Met135Hisfs*28) Both (homozygous) - likely pathogenic g.37840884dup g.39684631dup - - PGAP3_000013 - PubMed: Abdel-Hamid et al. 2017 - - Germline yes - - 0 - DNA SEQ peripheral blood leukocytes - HPMRS1;GPIBD2 Patient_10 PubMed: Abdel-Hamid 2017 - M yes Egypt - - 0 - - 1 Philippe Campeau
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