Transcript #00000212

Transcript name transcript variant X1
Gene name NDUFS4 (NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase))
Chromosome 5
Transcript - NCBI ID XM_005248525.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005248582.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-22C>A p.(=) - - - -
./. - - c.12G>C p.(=) - - - -
./. - - c.13T>C p.(Ser5Pro) - - - -
+/+ - 1/6 c.44G>A p.(Trp15*) - stop_gained,NMD_transcript_variant - -
./. - - c.44G>A p.(Trp15*) - - - -
./. - - c.99-1G>A p.? - - - -
./. - - c.102G>A p.(=) - - - -
./. - - c.178-4G>C p.? - - - -
./. - - c.178-2A>G p.? - - - -
./. - - c.198A>C p.(=) - - - -
./. - - c.290del p.(Trp97*) - - - -
+?/+? - - c.290del p.(Trp97*) - - - -
./. - - c.291del p.(Trp97*) - - - -
./. - - c.312A>G p.(=) - - - -
+/+ - 3/5 c.316C>T p.(Arg106*) - stop_gained - -
./. - - c.316C>T p.(Arg106*) - - - -
./. - - c.350+12132_350+12135del p.(=) - - - -
./. - - c.350+12150G>C p.(=) - - - -
./. - - c.350+12233_350+12234insT p.(=) - - - -
./. - - c.*22del p.(=) - - - -
./. - - c.*27_*28insCAAGT p.(=) - - - -
./. - - c.*33_*34del p.(=) - - - -
./. - - c.*74_*75insGAG p.(=) - - - -
./. - - c.*137G>A p.(=) - - - -
./. - - c.*170A>G p.(=) - - - -
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