Transcript #00005577

Transcript name COX15 homolog, cytochrome c oxidase assembly protein (yeast), transcript variant 2
Gene name COX15 (cytochrome c oxidase assembly homolog 15 (yeast))
Chromosome 10
Transcript - NCBI ID NM_004376.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_004367.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.107G>A VUS r.(?) p.(Arg36His)
-?/. - c.161G>A likely benign r.(?) p.(Gly54Glu)
?/. - c.199C>T VUS r.(?) p.(Arg67Trp)
+/. - c.452C>G pathogenic r.(?) p.(Ser151*)
?/. - c.452C>G VUS r.(?) p.(Ser151*)
+/. - c.452C>G pathogenic r.(?) p.(Ser151*)
-?/. - c.474T>C likely benign r.(?) p.(=)
-/. - c.548G>A benign r.(?) p.(Arg183His)
-?/. - c.548G>A likely benign r.(?) p.(Arg183His)
?/. - c.635C>T VUS r.(?) p.(Ser212Phe)
?/. - c.635C>T VUS r.(?) p.(Ser212Phe)
?/. - c.664C>T VUS r.(?) p.(Arg222Cys)
-?/. - c.906G>A likely benign r.(?) p.(=)
-/. - c.1120T>C benign r.(?) p.(Phe374Leu)
?/. - c.*8891T>G VUS r.(=) p.(=)
-?/. - c.*8913G>A likely benign r.(=) p.(=)
?/. - c.*17294G>C VUS r.(=) p.(=)
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