All transcript variants in gene COX15

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

25 entries on 1 page. Showing entries 1 - 25.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.106C>T r.(?) p.(Arg36Cys) - likely benign g.101489476G>A g.99729719G>A - - COX15_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.107G>A r.(?) p.(Arg36His) - VUS g.101489475C>T g.99729718C>T COX15(NM_004376.5):c.107G>A (p.(Arg36His)) - COX15_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.199C>T r.(?) p.(Arg67Trp) - VUS g.101489383G>A g.99729626G>A COX15(NM_004376.5):c.199C>T (p.(Arg67Trp)) - COX15_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.329C>T r.(?) p.(Pro110Leu) - VUS g.101487264G>A g.99727507G>A - - COX15_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.452C>G r.(?) p.(Ser151Ter) - pathogenic g.101486855G>C g.99727098G>C COX15(NM_078470.4):c.452C>G (p.S151*) - COX15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.452C>G r.(?) p.(Ser151Ter) - VUS g.101486855G>C g.99727098G>C COX15(NM_078470.4):c.452C>G (p.S151*) - COX15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.452C>G r.(?) p.(Ser151Ter) - pathogenic g.101486855G>C g.99727098G>C COX15(NM_078470.4):c.452C>G (p.S151*) - COX15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.452C>G r.(?) p.(Ser151Ter) - pathogenic g.101486855G>C g.99727098G>C COX15(NM_078470.4):c.452C>G (p.S151*) - COX15_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.474T>C r.(?) p.(Leu158=) - likely benign g.101486833A>G g.99727076A>G COX15(NM_078470.4):c.474T>C (p.L158=) - COX15_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.520G>A r.(?) p.(Gly174Ser) - VUS g.101486787C>T g.99727030C>T COX15(NM_078470.4):c.520G>A (p.G174S) - COX15_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.532C>T r.(?) p.(Arg178Cys) - VUS g.101486775G>A g.99727018G>A - - COX15_000020 14 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs192078749 Germline - 14/2795 individuals - 0 - Mohammed Faruq
-/. - c.548G>A r.(?) p.(Arg183His) - benign g.101486759C>T g.99727002C>T COX15(NM_078470.4):c.548G>A (p.R183H) - COX15_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.635C>T r.(?) p.(Ser212Phe) - VUS g.101483828G>A g.99724071G>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 - - - 0 - VKGL-NL_Leiden
?/. - c.635C>T r.(?) p.(Ser212Phe) - VUS g.101483828G>A g.99724071G>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_Rotterdam
?/. - c.664C>T r.(?) p.(Arg222Cys) - VUS g.101483799G>A g.99724042G>A COX15(NM_078470.4):c.664C>T (p.R222C) - COX15_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.784C>A r.(?) p.(Arg262=) - likely benign g.101480792G>T g.99721035G>T - - COX15_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.906G>A r.(?) p.(Pro302=) - likely benign g.101478184C>T g.99718427C>T COX15(NM_078470.4):c.906G>A (p.P302=) - COX15_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.987+102dup r.(=) p.(=) - benign g.101478002dup g.99718245dup - - COX15_000001 - - - rs3215694 Germline - - - 0 - Andreas Laner
?/. - c.988-8C>A r.(=) p.(=) - VUS g.101476226G>T g.99716469G>T - - COX15_000002 - - - - Germline - - - 0 - Andreas Laner
-/. - c.*1126T>C r.(=) p.(=) - benign g.101473218A>G g.99713461A>G COX15(NM_004376.5):c.1120T>C (p.F374L) - COX15_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.*1126T>C r.(=) p.(=) - benign g.101473218A>G - COX15(NM_004376.5):c.1120T>C (p.F374L) - COX15_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*4990A>G r.(=) p.(=) - VUS g.101469354T>C g.99709597T>C - - COX15_000019 75 heterozygous; Clinindb (India) Faruq 2020, submtted - rs76530337 Germline - 75/2786 individuals - 0 - Mohammed Faruq
?/. - c.*4990A>G r.(=) p.(=) - VUS g.101469354T>C g.99709597T>C - - COX15_000019 3 homozygous; Clinindb (India) Faruq 2020, submtted - rs76530337 Germline - 3/2786 individuals - 0 - Mohammed Faruq
?/. - c.*10064T>G r.(=) p.(=) - VUS g.101464280A>C g.99704523A>C ENTPD7(NM_020354.3):c.1655A>C (p.(Tyr552Ser)) - COX15_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*10086G>A r.(=) p.(=) - likely benign g.101464258C>T g.99704501C>T ENTPD7(NM_020354.4):c.1633C>T (p.L545F) - COX15_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend