All transcript variants in gene COX15

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

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     
-?/. - c.107G>A likely benign r.(?) p.(Arg36His) g.101489475C>T - COX15:NM_004376.5:c.107G>A, NM_015960.2:c.-2631C>T, … - COX15_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.452C>G pathogenic r.(?) p.(Ser151*) g.101486855G>C - COX15:NM_078470.4:c.452C>G (Ser151*) - COX15_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.474T>C likely benign r.(=) p.(=) g.101486833A>G - COX15:c.474T>C (=) - COX15_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.548G>A benign r.(?) p.(Arg183His) g.101486759C>T - COX15:c.548G>A (R183H) - COX15_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.635C>T VUS r.(?) p.(Ser212Phe) g.101483828G>A - COX15:NM_004376.5:c.635C>T, NM_078470.4:c.635C>T - COX15_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.906G>A likely benign r.(=) p.(=) g.101478184C>T - COX15:c.906G>A (=) - COX15_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.*8913G>A likely benign r.(=) p.(=) g.101464258C>T - ENTPD7:c.1633C>T (L545F) - COX15_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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