Full data view for gene PGAP3

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
+?/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES DD IV-1 PubMed: Nampoothiri 2017 - M yes Oman - - 0 - - 2 Philippe Campeau
+?/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - DNA SEQ-NG - WES DD, HPMRS6;GPIBD12 IV-2 PubMed: Nampoothiri 2017 - F yes Oman - - 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES, Homozygosity mapping HPMRS4;GPIBD10 VIII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >04y 0 - anti-epileptic medications 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, homozygosity by descent HPMRS4;GPIBD10 VIII-1 PubMed: Balobaid et al., 2018 - M yes Oman Middle Eastern >07y 0 - anti-epileptic medications 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES, homozygosity by descent HPMRS4;GPIBD10 VII-2 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >05y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES, homozygosity by descent HPMRS4;GPIBD10 VII-1 PubMed: Balobaid et al., 2018 - F yes Oman Middle Eastern >09y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral Blood WES HPMRS4;GPIBD10 VI-1 PubMed: Balobaid 2018 - F no Qatar Middle Eastern >06y 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral Blood WES, Targeted mutation analysis HPMRS4;GPIBD10 V-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >02y03m 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 IV-2 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >10y 0 - - 1 Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) Both (homozygous) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane. - - - Germline - - - 0 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 IV-1 PubMed: Balobaid 2018 - F yes Qatar Middle Eastern >13y 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Unknown - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG Peripheral blood Clinical Exome sequencing HPMRS4;GPIBD10 PGAP3 (2x)_individual 1 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on specific PGAP3 patients. - - - Middle Eastern - 0 - - 1 Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) Unknown - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG Peripheral blood Clinical Exome Sequencing HPMRS4;GPIBD10 PGAP3 (2x)_individual 2 PubMed: Yavarna et al., 2015 Paper presents a compilation of many genes. No detailed information on patient. - - - Middle Eastern - 0 - - 1 Philippe Campeau
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