Transcript #00001720

Transcript name ubiquinol-cytochrome c reductase core protein II
Gene name UQCRC2 (ubiquinol-cytochrome c reductase core protein II)
Chromosome 16
Transcript - NCBI ID NM_003366.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003357.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-434538_*7337753del - r.0? p.0?
./. - c.-116141_*433872del - r.0? p.0?
./. - c.-48732_*433872del - r.0? p.0?
?/. - c.140T>G VUS r.(?) p.(Leu47Trp)
+/. 7 c.547C>T pathogenic (recessive) r.(?) p.(Arg183Trp)
+/. 7 c.547C>T pathogenic (recessive) r.(?) p.(Arg183Trp)
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