Unique variants in gene COX15

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

15 entries on 1 page. Showing entries 1 - 15.
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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.106C>T likely benign r.(?) p.(Arg36Cys) g.101489476G>A - - - COX15_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.107G>A VUS r.(?) p.(Arg36His) g.101489475C>T - COX15(NM_004376.5):c.107G>A (p.(Arg36His)) - COX15_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.199C>T VUS r.(?) p.(Arg67Trp) g.101489383G>A - COX15(NM_004376.5):c.199C>T (p.(Arg67Trp)) - COX15_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.329C>T VUS r.(?) p.(Pro110Leu) g.101487264G>A - - - COX15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., ?/. 4 - c.452C>G pathogenic, VUS r.(?) p.(Ser151*) g.101486855G>C - COX15(NM_078470.4):c.452C>G (p.S151*) - COX15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.474T>C likely benign r.(?) p.(=) g.101486833A>G - COX15(NM_078470.4):c.474T>C (p.L158=) - COX15_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.520G>A VUS r.(?) p.(Gly174Ser) g.101486787C>T - COX15(NM_078470.4):c.520G>A (p.G174S) - COX15_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.548G>A benign r.(?) p.(Arg183His) g.101486759C>T - COX15(NM_078470.4):c.548G>A (p.R183H) - COX15_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.635C>T VUS r.(?) p.(Ser212Phe) g.101483828G>A - COX15(NM_004376.5):c.635C>T (p.(Ser212Phe)), COX15(NM_078470.4):c.635C>T (p.S212F) - COX15_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.664C>T VUS r.(?) p.(Arg222Cys) g.101483799G>A - COX15(NM_078470.4):c.664C>T (p.R222C) - COX15_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.784C>A likely benign r.(?) p.(=) g.101480792G>T - - - COX15_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.906G>A likely benign r.(?) p.(=) g.101478184C>T - COX15(NM_078470.4):c.906G>A (p.P302=) - COX15_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1120T>C benign r.(?) p.(Phe374Leu) g.101473218A>G - COX15(NM_004376.5):c.1120T>C (p.F374L) - COX15_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.*8891T>G VUS r.(=) p.(=) g.101464280A>C - ENTPD7(NM_020354.3):c.1655A>C (p.(Tyr552Ser)) - COX15_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.*8913G>A likely benign r.(=) p.(=) g.101464258C>T - ENTPD7(NM_020354.4):c.1633C>T (p.L545F) - COX15_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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