Unique variants in gene COX10

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

18 entries on 1 page. Showing entries 1 - 18.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.260C>T likely benign r.(?) p.(Thr87Ile) g.13980134C>T - COX10(NM_001303.3):c.260C>T (p.T87I) - COX10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.311C>T likely benign r.(?) p.(Pro104Leu) g.13980185C>T - COX10(NM_001303.3):c.311C>T (p.P104L) - COX10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.476G>A benign r.(?) p.(Arg159Gln) g.13980350G>A - COX10(NM_001303.3):c.476G>A (p.R159Q) - COX10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 2 - c.504G>A benign r.(?) p.(=) g.14005439G>A - COX10(NM_001303.3):c.504G>A (p.L168=) - COX10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 2 - c.699A>G benign r.(?) p.(=) g.14095309A>G - COX10(NM_001303.3):c.699A>G (p.P233=) - COX10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.909C>T benign r.(?) p.(=) g.14095519C>T - COX10(NM_001303.3):c.909C>T (p.A303=) - COX10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.928+12G>A - r.(=) p.(=) g.14095550G>A g.14192233G>A - - COX10_000002 - - - rs2856187 Germline - - - - - Andreas Laner
-/. 1 - c.928+101A>G benign r.(=) p.(=) g.14095639A>G - COX10(NM_001303.3):c.928+101A>G - COX10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.929-10_929-7dup likely benign r.(=) p.(=) g.14110117_14110120dup - COX10(NM_001303.3):c.929-6delGinsCCCCG - COX10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.929-9_929-7dup likely benign r.(=) p.(=) g.14110118_14110120dup - COX10(NM_001303.3):c.929-6delGinsCCCG - COX10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.929-7C>T likely benign r.(=) p.(=) g.14110120C>T - COX10(NM_001303.3):c.929-7C>T - COX10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.981C>T likely benign r.(?) p.(=) g.14110179C>T - COX10(NM_001303.3):c.981C>T (p.N327=) - COX10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1049del ACMG: 4 r.(?) p.Pro350Argfs*126 g.14110245del - - - COX10_000012 no second variant in COX10 deteced, not regarded causative in this patient - - - Germline - - - - - Andreas Laner
-?/. 1 - c.1096G>T likely benign r.(?) p.(Val366Leu) g.14110294G>T - COX10(NM_001303.3):c.1096G>T (p.(Val366Leu)) - COX10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1164C>T likely benign r.(?) p.(=) g.14110362C>T - COX10(NM_001303.3):c.1164C>T (p.I388=) - COX10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1291C>T VUS r.(?) p.(Arg431Trp) g.14110489C>T - COX10(NM_001303.3):c.1291C>T (p.R431W) - COX10_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1295C>T VUS r.(?) p.(Pro432Leu) g.14110493C>T - COX10(NM_001303.3):c.1295C>T (p.P432L) - COX10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*152del - r.(=) p.(=) g.14110682del g.14207365del - - COX10_000001 - - - - Germline - - - - - Andreas Laner
Legend