Full data view for gene COQ4

Information The variants shown are described using the NM_016035.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam12Pat13 PubMed: Laugwitz 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam13Pat14 PubMed: Laugwitz 2022 - F - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam14Pat15 PubMed: Laugwitz 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam15Pat16 PubMed: Laugwitz 2022 - F yes India Hindu Maharashtrian 6y - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Fam15Pat16b PubMed: Laugwitz 2022 - M yes India Hindu Maharashtrian 4y - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Maternal (confirmed) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat1;Fam27Pat32 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 8m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat2;Fam28Pat33 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - 2d - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat3;Fam29Pat34 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat4;Fam30Pat35 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Parent #1 - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat5;Fam30Pat36 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 1y - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat7;Fam32Pat38 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - 3y6m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Paternal (confirmed) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat8;Fam33Pat39 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat9;Fam34Pat40 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat10;Fam35Pat41 PubMed: Yu 2019, PubMed: Laugwitz 2022 2 generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Yu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D Pat11;Fam35Pat42 PubMed: Yu 2019, PubMed: Laugwitz 2022 sister F - China - 20m - - - 1 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Lu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatII1;Fam36Pat43 PubMed: Lu 2019, PubMed: Laugwitz 2022 2-generation family, affected brother/sister M - China - 5m - - - 2 Johan den Dunnen
+/. - c.370G>A r.(?) p.(Gly124Ser) Both (homozygous) - pathogenic (recessive) g.131088128G>A g.128325849G>A - - COQ4_000029 - PubMed: Lu 2019, PubMed: Laugwitz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - COQ10D FamPatII2;Fam36Pat44 PubMed: Lu 2019, PubMed: Laugwitz 2022 sister F - China - - - - - 1 Johan den Dunnen
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