Transcript #00000213

Transcript name NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Gene name NDUFS4 (NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase))
Chromosome 5
Transcript - NCBI ID NM_002495.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002486.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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.291del p.(Trp97*) - - - -
./. - - c.312A>G p.(=) - - - -
./. - - c.316C>T p.(Arg106*) - - - -
+/+ - 3/5 c.316C>T p.(Arg106*) - stop_gained - -
./. - - c.351-14_351-11del p.(=) - - - -
./. - - c.355G>C p.(Asp119His) - - - -
./. - - c.424+14_424+15insT p.(=) - - - -
./. - - c.459del p.(Lys154Asnfs*35) - - - -
./. - - c.464_465insCAAGT p.(Lys158Serfs*33) - - - -
./. - - c.470_471del p.(Ser157*) - - - -
./. - - c.511_512insGAG p.(Arg171_Val172insGly) - - - -
./. - - c.*46G>A p.(=) - - - -
./. - - c.*79A>G p.(=) - - - -
Legend