All variants in the PGAP3 gene

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     

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.850C>T r.(?) p.(His284Tyr) - VUS g.37829353G>A g.39673100G>A - - PGAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.850C>T r.(?) p.(His284Tyr) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 Mutation is heterozygous in the available parents. 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.850C>T r.(?) p.(His284Tyr) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 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.850C>T r.(?) p.(His284Tyr) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 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.850C>T r.(?) p.(His284Tyr) - pathogenic g.37829353G>A g.39673100G>A - - PGAP3_000008 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.850C>T r.(?) p.(His284Tyr) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - LOVD
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