Full data view for gene ADCK4

NOTE: gene name changed from ADCK4 to COQ8B
Information The variants shown are described using the NM_024876.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-1716C>G r.(?) p.(=) Unknown - benign g.41224204G>C g.40718299G>C - - ADCK4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.20G>A r.(?) p.(Gly7Asp) Unknown - likely benign g.41220518C>T - COQ8B(NM_024876.4):c.20G>A (p.G7D) - ADCK4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.187C>T r.(?) p.(Arg63Trp) Parent #2 - likely pathogenic (recessive) g.41220218G>A g.40714313G>A - - ADCK4_000033 - PubMed: Iglesias-Romero 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES RP Fam2LL322 PubMed: Iglesias-Romero 2024 3-generation family, 2 affected sisters, unaffected parents/relatives F - Portugal - - - - - 2 Johan den Dunnen
+?/. - c.187C>T r.(?) p.(Arg63Trp) Parent #2 - likely pathogenic (recessive) g.41220218G>A g.40714313G>A - - ADCK4_000033 - PubMed: Iglesias-Romero 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES RP Fam2LL342 PubMed: Iglesias-Romero 2024 sister F - Portugal - - - - - 1 Johan den Dunnen
+?/. - c.187C>T r.(?) p.(Arg63Trp) Parent #2 - likely pathogenic (recessive) g.41220218G>A g.40714313G>A - - ADCK4_000033 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam3LL82 PubMed: Iglesias-Romero 2024 2-generation family, 1 affected, unaffected parents/relatives F yes Portugal - - - - - 1 Johan den Dunnen
-/. - c.232C>T r.(?) p.(Arg78Cys) Parent #1 - benign g.41220029G>A g.40714124G>A - - ADCK4_000009 55 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11538384 Germline - 55/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 55 Mohammed Faruq
-/. - c.232C>T r.(?) p.(Arg78Cys) Both (homozygous) - benign g.41220029G>A g.40714124G>A - - ADCK4_000009 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11538384 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.532C>T r.(?) p.(Arg178Trp) Both (homozygous) ACMG pathogenic g.41211045G>A g.40705140G>A - - ADCK4_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - NPHS9 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.532C>T r.(?) p.(Arg178Trp) Unknown - pathogenic g.41211045G>A g.40705140G>A COQ8B(NM_024876.4):c.532C>T (p.R178W) - ADCK4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.532C>T r.(?) p.(Arg178Trp) Unknown - likely pathogenic g.41211045G>A g.40705140G>A COQ8B(NM_024876.4):c.532C>T (p.R178W) - ADCK4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.566G>A r.(?) p.(Trp189Ter) Parent #2 - likely pathogenic (recessive) g.41211011C>T g.40705106C>T - - ADCK4_000032 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam4GC28007 PubMed: Iglesias-Romero 2024 3-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.645del r.(?) p.(Phe215LeufsTer14) Unknown - pathogenic g.41209694del - COQ8B(NM_024876.3):c.645delT (p.F215Lfs*14) - ADCK4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.649G>A r.(?) p.(Ala217Thr) Unknown - VUS g.41209688C>T - COQ8B(NM_024876.3):c.649G>A (p.A217T) - ADCK4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.663G>A r.(?) p.(Gly221=) Unknown - likely benign g.41209674C>T - COQ8B(NM_024876.4):c.663G>A (p.G221=) - ADCK4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.737G>A r.(?) p.(Ser246Asn) Unknown - likely pathogenic g.41209508C>T g.40703603C>T ADCK4 (NM_024876.3):c.748G>C(p.D250H)/c.737G>A(p.S246N) - ADCK4_000020 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 135 - - - DNA SEQ-NG-I blood - ? WHP35 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.748G>C r.(?) p.(Asp250His) Unknown - likely pathogenic g.41209497C>G g.40703592C>G ADCK4 (NM_024876.3):c.748G>C(p.D250H)/c.737G>A(p.S246N) - ADCK4_000019 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 135 - - - DNA SEQ-NG-I blood - ? WHP35 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
-?/. - c.785C>T r.(?) p.(Ala262Val) Unknown - likely benign g.41209460G>A g.40703555G>A - - ADCK4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947T>A r.(?) p.(Leu316Gln) Both (homozygous) - VUS g.41206303A>T g.40700398A>T - - ADCK4_000034 - - - - Germline - - - - - DNA SEQ-NG - - kidney disease, RD - - - M yes Israel Muslim Arab - - - - 1 Tamar Ben-Yosef
-?/. - c.1035+8G>A r.(=) p.(=) Unknown - likely benign g.41206207C>T - COQ8B(NM_024876.4):c.1035+8G>A - ADCK4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035+13G>C r.(=) p.(=) Unknown - likely benign g.41206202C>G - COQ8B(NM_024876.4):c.1035+13G>C - ADCK4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1036-3C>G r.spl? p.? Unknown - likely benign g.41206082G>C - COQ8B(NM_024876.3):c.1036-3C>G - ADCK4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1084C>T r.(?) p.(Arg362Ter) Unknown - pathogenic g.41206031G>A - COQ8B(NM_024876.4):c.1084C>T (p.R362*) - ADCK4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1150C>T r.(?) p.(Leu384=) Unknown - likely benign g.41201953G>A - COQ8B(NM_024876.4):c.1150C>T (p.L384=) - ADCK4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1156G>A r.(?) p.(Asp386Asn) Parent #1 - likely pathogenic (recessive) g.41201947C>T g.40696042C>T - - ADCK4_000031 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam1LL309 PubMed: Iglesias-Romero 2024 3-generation family, 1 affected, unaffected parents/relatives M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1199dup r.(?) p.(His400GlnfsTer11) Unknown - pathogenic g.41201904dup g.40695999dup COQ8B(NM_024876.4):c.1199dupA (p.H400Qfs*11) - ADCK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1199dup r.(?) p.(His400GlnfsTer11) Unknown - likely pathogenic g.41201904dup - COQ8B(NM_024876.4):c.1199dupA (p.H400Qfs*11) - ADCK4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1202_1205dup r.(?) p.(Glu403Hisfs*9) Unknown - pathogenic g.41201899_41201902dup - - - ADCK4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206C>T r.(?) p.(Ile402=) Unknown - likely benign g.41201897G>A - COQ8B(NM_024876.4):c.1206C>T (p.I402=) - ADCK4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-10G>A r.(=) p.(=) Unknown - likely benign g.41198952C>T - COQ8B(NM_024876.4):c.1210-10G>A - ADCK4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1210-10G>C r.(=) p.(=) Unknown - likely benign g.41198952C>G - COQ8B(NM_024876.4):c.1210-10G>C - ADCK4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1305C>T r.(?) p.(Ser435=) Unknown - benign g.41198270G>A g.40692365G>A COQ8B(NM_024876.4):c.1305C>T (p.S435=) - ADCK4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1324G>A r.(?) p.(Val442Met) Parent #2 - likely pathogenic (recessive) g.41198251C>T g.40692346C>T - - ADCK4_000030 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam1LL309 PubMed: Iglesias-Romero 2024 3-generation family, 1 affected, unaffected parents/relatives M - Portugal - - - - - 1 Johan den Dunnen
-?/. - c.1347C>T r.(?) p.(Phe449=) Unknown - likely benign g.41198228G>A - COQ8B(NM_024876.4):c.1347C>T (p.F449=) - ADCK4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1364A>G r.(?) p.(Tyr455Cys) Unknown - likely benign g.41198211T>C - COQ8B(NM_024876.4):c.1364A>G (p.Y455C) - ADCK4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365T>C r.(?) p.(Tyr455=) Unknown - likely benign g.41198210A>G - COQ8B(NM_024876.4):c.1365T>C (p.Y455=) - ADCK4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1448A>G r.(?) p.Glu483Gly Unknown ACMG VUS g.41198127T>C g.40692222T>C - - ADCK4_000005 - - - rs752780517 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
+?/. - c.1560G>A r.(?) p.(Trp520Ter) Parent #1 - likely pathogenic (recessive) g.41198015C>T g.40692110C>T - - ADCK4_000029 - PubMed: Iglesias-Romero 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES RP Fam2LL322 PubMed: Iglesias-Romero 2024 3-generation family, 2 affected sisters, unaffected parents/relatives F - Portugal - - - - - 2 Johan den Dunnen
+?/. - c.1560G>A r.(?) p.(Trp520Ter) Parent #1 - likely pathogenic (recessive) g.41198015C>T g.40692110C>T - - ADCK4_000029 - PubMed: Iglesias-Romero 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES RP Fam2LL342 PubMed: Iglesias-Romero 2024 sister F - Portugal - - - - - 1 Johan den Dunnen
+?/. - c.1560G>A r.(?) p.(Trp520Ter) Parent #1 - likely pathogenic (recessive) g.41198015C>T g.40692110C>T - - ADCK4_000029 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam3LL82 PubMed: Iglesias-Romero 2024 2-generation family, 1 affected, unaffected parents/relatives F yes Portugal - - - - - 1 Johan den Dunnen
+?/. - c.1560G>A r.(?) p.(Trp520Ter) Parent #1 - likely pathogenic (recessive) g.41198015C>T g.40692110C>T - - ADCK4_000029 - PubMed: Iglesias-Romero 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam4GC28007 PubMed: Iglesias-Romero 2024 3-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.1579G>A r.(?) p.(Ala527Thr) Unknown - likely benign g.41197996C>T - COQ8B(NM_024876.4):c.1579G>A (p.A527T) - ADCK4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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