Unique variants in gene COX10

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

12 entries on 1 page. Showing entries 1 - 12.
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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.476G>A benign r.(?) p.(Arg159Gln) g.13980350G>A - COX10:c.476G>A (R159Q) - COX10_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.504G>A benign r.(=) p.(=) g.14005439G>A - COX10:c.504G>A (=) - COX10_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.699A>G benign r.(=) p.(=) g.14095309A>G - COX10:c.699A>G (=) - COX10_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 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:c.928+101A>G - COX10_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.929-10_929-7dup likely benign r.(=) p.(=) g.14110117_14110120dup - COX10:c.929-6delGinsCCCCG - COX10_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.929-9_929-7dup likely benign r.(=) p.(=) g.14110118_14110120dup - COX10:c.929-6delGinsCCCG - COX10_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.929-7C>T likely benign r.(=) p.(=) g.14110120C>T - COX10:c.929-7C>T - COX10_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.981C>T likely benign r.(=) p.(=) g.14110179C>T - COX10:c.981C>T (=) - COX10_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1049del - 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.1295C>T VUS r.(?) p.(Pro432Leu) g.14110493C>T - COX10:c.1295C>T (P432L) - COX10_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*152del - r.(=) p.(=) g.14110682del g.14207365del - - COX10_000001 - - - - Germline - - - - - Andreas Laner
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