Transcript #00000210

Transcript name transcript variant X2
Gene name NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase))
Chromosome 1
Transcript - NCBI ID XM_005245209.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005245266.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-3198G>A p.(=) - - - -
./. - - c.-3198G>T p.(=) - - - -
./. - - c.-3156G>A p.(=) - - - -
./. - - c.-3108C>G p.(=) - - - -
./. - - c.-405G>A p.(=) - - - -
./. - - c.-346C>A p.(=) - - - -
./. - - c.-343G>A p.(=) - - - -
./. - - c.-215C>T p.? - - - -
./. - - c.-207C>T p.(=) - - - -
./. - - c.-130C>A p.(=) - - - -
./. - - c.-93+14C>T p.(=) - - - -
./. - - c.-93+959G>A p.(=) - - - -
./. - - c.-93+1023A>G p.(=) - - - -
./. - - c.-27G>A p.(=) - - - -
./. - - c.43A>G p.(Ile15Val) - - - -
./. - - c.147C>T p.(=) - - - -
./. - - c.220+11C>T p.(=) - - - -
./. - - c.221-3C>A p.? - - - -
./. - - c.334-12C>T p.(=) - - - -
+/+ - 5/13 c.389G>A p.(Arg130Gln) - missense_variant - -
./. - - c.389G>A p.(Arg130Gln) - - - -
./. - - c.392C>A p.(Pro131Gln) - - - -
+/+ - 5/13 c.392C>A p.(Pro131Gln) - missense_variant - -
./. - - c.408+12_408+13insCCGG p.(=) - - - -
./. - - c.573T>C p.(=) - - - -
./. - - c.609C>T p.(=) - - - -
./. - - c.665T>C p.(Val222Ala) - - - -
./. - - c.692+12A>G p.(=) - - - -
./. - - c.760C>G p.(Pro254Ala) - - - -
./. - - c.918+7A>G p.(=) - - - -
./. - - c.919-10del p.(=) - - - -
./. - - c.921A>G p.(=) - - - -
./. - - c.943T>C p.(Ser315Pro) - - - -
+/+ - 11/13 c.943T>C p.(Ser315Pro) - missense_variant - -
./. - - c.996C>T p.(=) - - - -
./. - - c.1060+5G>A p.? - - - -
./. - - c.1060+10C>A p.(=) - - - -
./. - - c.*71_*76delinsTGCGTCTGTGTGTG p.(=) - - - -
./. - - c.*76_*77insTG p.(=) - - - -
./. - - c.*76_*77insTGTGTG p.(=) - - - -
./. - - c.*77_*78del p.(=) - - - -
./. - - c.*106_*107insTA p.(=) - - - -
./. - - c.*108A>T p.(=) - - - -
./. - - c.*114A>G p.(=) - - - -
./. - - c.*187G>A p.(=) - - - -
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