Transcript #00000206

Transcript name transcript variant 5
Gene name NDUFS1 (NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase))
Chromosome 2
Transcript - NCBI ID NM_001199984.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186913.1
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.-250C>G p.(=) - - - -
./. - - c.106C>T p.(Arg36*) - - - -
./. - - c.165C>T p.(=) - - - -
./. - - c.196-10_196-9del p.(=) - - - -
./. - - c.304-15del p.(=) - - - -
./. - - c.304-15_304-14insT p.(=) - - - -
./. - - c.406G>A p.(Ala136Thr) - - - -
./. - - c.438C>A p.(Asp146Glu) - - - -
./. - - c.456T>C p.(=) - - - -
./. - - c.463-7A>G p.(=) - - - -
./. - - c.593+14C>A p.(=) - - - -
./. - - c.708_710del p.(Ile237del) - - - -
+/+ - - c.708_710del p.(Ile237del) - - - -
./. - 8/19 c.721C>T p.(Pro241Ser) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.725T>C p.(Val242Ala) - - - -
+/+ - 8/19 c.733C>G p.(Leu245Val) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.733C>G p.(Leu245Val) - - - -
+/+ - 8/19 c.763C>T p.(Arg255Trp) probably_damaging(0.997) missense_variant - deleterious(0)
./. - - c.763C>T p.(Arg255Trp) - - - -
./. - - c.779+1G>A p.? - - - -
+/+ - 9/19 c.797A>G p.(Asp266Gly) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.797A>G p.(Asp266Gly) - - - -
./. - - c.800T>G p.(Val267Gly) - - - -
./. - - c.887A>G p.(Asn296Ser) - - - -
./. - - c.950C>G p.(Thr317Ser) - - - -
./. - - c.1008G>T p.(=) - - - -
./. - - c.1017C>T p.(=) - - - -
./. - - c.1162A>G p.(Thr388Ala) - - - -
./. - - c.1264C>T p.(Arg422Cys) - - - -
+/+ - 12/19 c.1264C>T p.(Arg422Cys) probably_damaging(0.924) missense_variant - deleterious(0)
./. - - c.1291A>G p.(Arg431Gly) - - - -
./. - - c.1293A>G p.(=) - - - -
./. - - c.1333C>G p.(Leu445Val) - - - -
./. - - c.1405A>G p.(Ile469Val) - - - -
./. - - c.1413G>A p.(=) - - - -
./. - - c.1435-7del p.(=) - - - -
./. - - c.1558G>A p.(Val520Ile) - - - -
./. - - c.1596-1G>A p.? - - - -
+/+ - 15/19 c.1711C>T p.(Arg571*) - stop_gained - -
./. - - c.1711C>T p.(Arg571*) - - - -
+/+ - 16/19 c.1825A>G p.(Thr609Ala) possibly_damaging(0.826) missense_variant - deleterious(0.02)
./. - - c.1825A>G p.(Thr609Ala) - - - -
+/+ - 16/19 c.1897G>A p.(Asp633Asn) probably_damaging(1) missense_variant - deleterious(0.01)
./. - - c.1897G>A p.(Asp633Asn) - - - -
./. - - c.2048A>G p.(Asn683Ser) - - - -
./. - - c.2171G>A p.(Cys724Tyr) - - - -
./. - - 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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