All variants in the PGAP3 gene

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     

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     
+?/. 7 c.851A>G r.(?) p.(His284Arg) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. 7 c.851A>G r.(?) p.(His284Arg) - likely pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - PubMed: Nampoothiri et al. 2017 - - Germline - - - 0 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. 7 c.851A>G r.(?) p.(His284Arg) - 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 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - Philippe Campeau
+/. - c.851A>G r.(?) p.(His284Arg) - pathogenic g.37829352T>C g.39673099T>C - - PGAP3_000020 - - - - De novo - - - 0 - Philippe Campeau
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