Transcript #00005573

Transcript name COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)
Gene name COX10 (cytochrome c oxidase assembly homolog 10 (yeast))
Chromosome 17
Transcript - NCBI ID NM_001303.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001294.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

21 entries on 1 page. Showing entries 1 - 21.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.260C>T likely benign r.(?) p.(Thr87Ile)
-?/. - c.311C>T likely benign r.(?) p.(Pro104Leu)
-/. - c.476G>A benign r.(?) p.(Arg159Gln)
-/. - c.476G>A benign r.(?) p.(Arg159Gln)
-/. - c.504G>A benign r.(?) p.(=)
-/. - c.504G>A benign r.(?) p.(=)
-/. - c.699A>G benign r.(?) p.(=)
-/. - c.699A>G benign r.(?) p.(=)
-/. - c.909C>T benign r.(?) p.(=)
-/. - c.928+12G>A - r.(=) p.(=)
-/. - c.928+101A>G benign r.(=) p.(=)
-?/. - c.929-10_929-7dup likely benign r.(=) p.(=)
-?/. - c.929-9_929-7dup likely benign r.(=) p.(=)
-?/. - c.929-7C>T likely benign r.(=) p.(=)
-?/. - c.981C>T likely benign r.(?) p.(=)
+?/. - c.1049del ACMG: 4 r.(?) p.Pro350Argfs*126
-?/. - c.1096G>T likely benign r.(?) p.(Val366Leu)
-?/. - c.1164C>T likely benign r.(?) p.(=)
?/. - c.1291C>T VUS r.(?) p.(Arg431Trp)
?/. - c.1295C>T VUS r.(?) p.(Pro432Leu)
?/. - c.*152del - r.(=) p.(=)
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