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.850C>T r.(?) p.(His284Tyr) Unknown - VUS g.37829353G>A g.39673100G>A - - PGAP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 I-1 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >09y 0 - anti-epileptic medications 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 II-2 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >03y 0 - - 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 II-1 PubMed: Balobaid et al., 2018 - M yes Saudi Arabia Middle Eastern >08y 0 - anti-epileptic medications 1 Philippe Campeau
+/. 7 c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - 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 - DNA SEQ, SEQ-NG Peripheral blood WES HPMRS4;GPIBD10 I-2 PubMed: Balobaid et al., 2018 - F yes Saudi Arabia Middle Eastern >06y 0 - - 1 Philippe Campeau
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0809 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - 1 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0578 PubMed: Maddirevula 2018 family F yes - Arab - 0 - - 1 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2300 , 12DG2301 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - 0 - - 2 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0816 , 16DG0111 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - 0 - - 2 LOVD
+/. - c.850C>T r.(?) p.(His284Tyr) Both (homozygous) - pathogenic (recessive) g.37829353G>A g.39673100G>A NM_033419.3:c.850C>T:p.(His284Tyr) - PGAP3_000008 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG2083 , 14DG2084, 14DG2085 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - 0 - - 3 LOVD
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