Transcript #00000202

Transcript name transcript variant 3
Gene name NDUFS1 (NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase))
Chromosome 2
Transcript - NCBI ID NM_001199982.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186911.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-103C>G p.(=) - - - -
./. - - c.5+1110C>T p.(=) - - - -
./. - - c.5+1169C>T p.(=) - - - -
./. - - c.6-2101_6-2100del p.(=) - - - -
./. - - c.6-1277del p.(=) - - - -
./. - - c.6-1277_6-1276insT p.(=) - - - -
./. - - c.31G>A p.(Ala11Thr) - - - -
./. - - c.63C>A p.(Asp21Glu) - - - -
./. - - c.81T>C p.(=) - - - -
./. - - c.88-7A>G p.(=) - - - -
./. - - c.218+14C>A p.(=) - - - -
./. - - c.333_335del p.(Ile112del) - - - -
+/+ - - c.333_335del p.(Ile112del) - - - -
./. - 5/16 c.346C>T p.(Pro116Ser) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.350T>C p.(Val117Ala) - - - -
+/+ - 5/16 c.358C>G p.(Leu120Val) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.358C>G p.(Leu120Val) - - - -
+/+ - 5/16 c.388C>T p.(Arg130Trp) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.388C>T p.(Arg130Trp) - - - -
./. - - c.404+1G>A p.? - - - -
+/+ - 6/16 c.422A>G p.(Asp141Gly) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.422A>G p.(Asp141Gly) - - - -
./. - - c.425T>G p.(Val142Gly) - - - -
./. - - c.512A>G p.(Asn171Ser) - - - -
./. - - c.575C>G p.(Thr192Ser) - - - -
./. - - c.633G>T p.(=) - - - -
./. - - c.642C>T p.(=) - - - -
./. - - c.787A>G p.(Thr263Ala) - - - -
./. - - c.889C>T p.(Arg297Cys) - - - -
+/+ - 9/16 c.889C>T p.(Arg297Cys) possibly_damaging(0.711) missense_variant - deleterious(0)
./. - - c.916A>G p.(Arg306Gly) - - - -
./. - - c.918A>G p.(=) - - - -
./. - - c.958C>G p.(Leu320Val) - - - -
./. - - c.1030A>G p.(Ile344Val) - - - -
./. - - c.1038G>A p.(=) - - - -
./. - - c.1060-7del p.(=) - - - -
./. - - c.1183G>A p.(Val395Ile) - - - -
./. - - c.1221-1G>A p.? - - - -
./. - - c.1336C>T p.(Arg446*) - - - -
+/+ - 12/16 c.1336C>T p.(Arg446*) - stop_gained - -
+/+ - 13/16 c.1450A>G p.(Thr484Ala) possibly_damaging(0.877) missense_variant - deleterious(0.01)
./. - - c.1450A>G p.(Thr484Ala) - - - -
./. - - c.1522G>A p.(Asp508Asn) - - - -
+/+ - 13/16 c.1522G>A p.(Asp508Asn) probably_damaging(0.999) missense_variant - deleterious(0.01)
./. - - c.1673A>G p.(Asn558Ser) - - - -
./. - - c.1796G>A p.(Cys599Tyr) - - - -
./. - - c.*27C>T p.(=) - - - -
./. - - c.*93_*94insA p.(=) - - - -
./. - - c.*151T>C p.(=) - - - -
./. - - c.*158T>C p.(=) - - - -
./. - - c.*256C>T p.(=) - - - -
./. - - c.*336G>T p.(=) - - - -
./. - - c.*399G>A p.(=) - - - -
./. - - c.*438C>T p.(=) - - - -
./. - - c.*457T>A p.(=) - - - -
./. - - c.*504G>A p.(=) - - - -
./. - - c.*561T>C p.(=) - - - -
./. - - c.*641A>G p.(=) - - - -
./. - - c.*733A>G p.(=) - - - -
./. - - c.*756A>T p.(=) - - - -
./. - - c.*846del p.(=) - - - -
./. - - c.*846_*847insT p.(=) - - - -
./. - - c.*866A>C p.(=) - - - -
./. - - c.*966A>G p.(=) - - - -
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