Full data view for gene COX10

Information The variants shown are described using the NM_001303.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-63C>T r.(=) p.(=) Parent #1 - VUS g.13972860C>T g.14069543C>T - - COX10_000023 37 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77877576 Germline - 37/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 37 Mohammed Faruq
?/. - c.-63C>T r.(=) p.(=) Both (homozygous) - VUS g.13972860C>T g.14069543C>T - - COX10_000023 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77877576 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.1A>G r.(?) p.(Met1?) Unknown - VUS g.13972923A>G - COX10(NM_001303.3):c.1A>G (p.M1?) - COX10_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.23T>C r.(?) p.(Leu8Pro) Unknown - VUS g.13972945T>C - COX10(NM_001303.4):c.23T>C (p.L8P) - COX10_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43+2dup r.spl? p.? Unknown - VUS g.13972967dup - COX10(NM_001303.3):c.43+2dupT - COX10_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93C>A r.(?) p.(Asp31Glu) Unknown - likely benign g.13977689C>A - COX10(NM_001303.4):c.93C>A (p.D31E) - COX10_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.260C>T r.(?) p.(Thr87Ile) Unknown - likely benign g.13980134C>T g.14076817C>T COX10(NM_001303.3):c.260C>T (p.T87I) - COX10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.311C>T r.(?) p.(Pro104Leu) Unknown - likely benign g.13980185C>T g.14076868C>T COX10(NM_001303.3):c.311C>T (p.P104L) - COX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.476G>A r.(?) p.(Arg159Gln) Unknown - benign g.13980350G>A g.14077033G>A COX10(NM_001303.4):c.476G>A (p.R159Q) - COX10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.476G>A r.(?) p.(Arg159Gln) Unknown - benign g.13980350G>A g.14077033G>A COX10(NM_001303.4):c.476G>A (p.R159Q) - COX10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504G>A r.(?) p.(Leu168=) Unknown - benign g.14005439G>A g.14102122G>A COX10(NM_001303.4):c.504G>A (p.L168=) - COX10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504G>A r.(?) p.(Leu168=) Unknown - benign g.14005439G>A g.14102122G>A COX10(NM_001303.4):c.504G>A (p.L168=) - COX10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.674C>T r.(?) p.(Pro225Leu) Both (homozygous) - pathogenic g.14063243C>T g.14159926C>T - - COX10_000020 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat36 PubMed: Pronicka 2016 - M - Poland - - - - - 1 Johan den Dunnen
-?/. - c.696-7T>C r.(=) p.(=) Unknown - likely benign g.14095299T>C - COX10(NM_001303.3):c.696-7T>C (p.(=)) - COX10_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699A>G r.(?) p.(Pro233=) Unknown - benign g.14095309A>G g.14191992A>G COX10(NM_001303.4):c.699A>G (p.P233=) - COX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699A>G r.(?) p.(Pro233=) Unknown - benign g.14095309A>G g.14191992A>G COX10(NM_001303.4):c.699A>G (p.P233=) - COX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.862G>A r.(?) p.(Gly288Arg) Unknown - VUS g.14095472G>A - COX10(NM_001303.3):c.862G>A (p.G288R) - COX10_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909C>T r.(?) p.(Ala303=) Unknown - benign g.14095519C>T g.14192202C>T COX10(NM_001303.3):c.909C>T (p.A303=) - COX10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.928+12G>A r.(=) p.(=) Parent #1 - benign g.14095550G>A g.14192233G>A - - COX10_000002 - - - rs2856187 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.928+101A>G r.(=) p.(=) Unknown - benign g.14095639A>G g.14192322A>G COX10(NM_001303.4):c.928+101A>G - COX10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929-10_929-7dup r.(=) p.(=) Unknown - likely benign g.14110117_14110120dup g.14206800_14206803dup COX10(NM_001303.4):c.929-6delGinsCCCCG - COX10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929-9_929-7dup r.(=) p.(=) Unknown - likely benign g.14110118_14110120dup g.14206801_14206803dup COX10(NM_001303.4):c.929-6delGinsCCCG - COX10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929-7C>T r.(=) p.(=) Unknown - likely benign g.14110120C>T g.14206803C>T COX10(NM_001303.3):c.929-7C>T, COX10(NM_001303.4):c.929-7C>T - COX10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929-7C>T r.(=) p.(=) Unknown - likely benign g.14110120C>T - COX10(NM_001303.3):c.929-7C>T, COX10(NM_001303.4):c.929-7C>T - COX10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981C>T r.(?) p.(Asn327=) Unknown - likely benign g.14110179C>T g.14206862C>T COX10(NM_001303.4):c.981C>T (p.N327=) - COX10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1007A>T r.(?) p.(Asp336Val) Unknown - pathogenic g.14110205A>T - COX10(NM_001303.3):c.1007A>T (p.D336V), COX10(NM_001303.4):c.1007A>T (p.(Asp336Val), p.D336V) - COX10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1007A>T r.(?) p.(Asp336Val) Unknown - pathogenic g.14110205A>T - COX10(NM_001303.3):c.1007A>T (p.D336V), COX10(NM_001303.4):c.1007A>T (p.(Asp336Val), p.D336V) - COX10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1007A>T r.(?) p.(Asp336Val) Unknown - likely pathogenic g.14110205A>T - COX10(NM_001303.3):c.1007A>T (p.D336V), COX10(NM_001303.4):c.1007A>T (p.(Asp336Val), p.D336V) - COX10_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1030A>G r.(?) p.(Met344Val) Paternal (confirmed) - pathogenic g.14110228A>G g.14206911A>G - - COX10_000021 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat9 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
+?/. - c.1049del r.(?) p.Pro350Argfs*126 Unknown ACMG likely pathogenic g.14110247del g.14206930del - - COX10_000012 no second variant in COX10 deteced, not regarded causative in this patient - - - Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1063C>T r.(?) p.(Arg355Cys) Unknown - VUS g.14110261C>T - COX10(NM_001303.4):c.1063C>T (p.(Arg355Cys)) - COX10_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1164C>T r.(?) p.(Ile388=) Unknown - likely benign g.14110362C>T g.14207045C>T COX10(NM_001303.3):c.1164C>T (p.I388=) - COX10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1270dup r.(?) p.(Leu424Profs*41) Maternal (confirmed) - pathogenic g.14110468dup g.14207151dup 1270dupC - COX10_000022 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - DNA SEQ, SEQ-NG - WES ? Pat9 PubMed: Pronicka 2016 no family history M - Poland - - - - - 1 Johan den Dunnen
?/. - c.1291C>T r.(?) p.(Arg431Trp) Unknown - VUS g.14110489C>T g.14207172C>T COX10(NM_001303.3):c.1291C>T (p.R431W, p.(Arg431Trp)), COX10(NM_001303.4):c.1291C>T (p.R431W) - COX10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1291C>T r.(?) p.(Arg431Trp) Parent #1 - VUS g.14110489C>T g.14207172C>T - - COX10_000018 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113058506 Germline - 7/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.1291C>T r.(?) p.(Arg431Trp) Unknown - likely benign g.14110489C>T - COX10(NM_001303.3):c.1291C>T (p.R431W, p.(Arg431Trp)), COX10(NM_001303.4):c.1291C>T (p.R431W) - COX10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1291C>T r.(?) p.(Arg431Trp) Unknown - likely benign g.14110489C>T - COX10(NM_001303.3):c.1291C>T (p.R431W, p.(Arg431Trp)), COX10(NM_001303.4):c.1291C>T (p.R431W) - COX10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1295C>T r.(?) p.(Pro432Leu) Unknown - VUS g.14110493C>T g.14207176C>T COX10(NM_001303.4):c.1295C>T (p.P432L) - COX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*152del r.(=) p.(=) Parent #1 - VUS g.14110682del g.14207365del - - COX10_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
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