Transcript #00000205

Transcript name transcript variant 1
Gene name NDUFS1 (NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase))
Chromosome 2
Transcript - NCBI ID NM_005006.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_004997.4
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.-47C>G p.(=) - - - -
./. - - c.64C>T p.(Arg22*) - - - -
./. - - c.123C>T p.(=) - - - -
./. - - c.154-10_154-9del p.(=) - - - -
./. - - c.262-15del p.(=) - - - -
./. - - c.262-15_262-14insT p.(=) - - - -
./. - - c.364G>A p.(Ala122Thr) - - - -
./. - - c.396C>A p.(Asp132Glu) - - - -
./. - - c.414T>C p.(=) - - - -
./. - - c.421-7A>G p.(=) - - - -
./. - - c.551+14C>A p.(=) - - - -
./. - - c.666_668del p.(Ile223del) - - - -
+/+ - - c.666_668del p.(Ile223del) - - - -
./. - 8/19 c.679C>T p.(Pro227Ser) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.683T>C p.(Val228Ala) - - - -
./. - - c.691C>G p.(Leu231Val) - - - -
+/+ - 8/19 c.691C>G p.(Leu231Val) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 8/19 c.721C>T p.(Arg241Trp) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.721C>T p.(Arg241Trp) - - - -
./. - - c.737+1G>A p.? - - - -
+/+ - 9/19 c.755A>G p.(Asp252Gly) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.755A>G p.(Asp252Gly) - - - -
./. - - c.758T>G p.(Val253Gly) - - - -
./. - - c.845A>G p.(Asn282Ser) - - - -
./. - - c.908C>G p.(Thr303Ser) - - - -
./. - - c.966G>T p.(=) - - - -
./. - - c.975C>T p.(=) - - - -
./. - - c.1120A>G p.(Thr374Ala) - - - -
./. - - c.1222C>T p.(Arg408Cys) - - - -
+/+ - 12/19 c.1222C>T p.(Arg408Cys) possibly_damaging(0.691) missense_variant - deleterious(0)
./. - - c.1249A>G p.(Arg417Gly) - - - -
./. - - c.1251A>G p.(=) - - - -
./. - - c.1291C>G p.(Leu431Val) - - - -
./. - - c.1363A>G p.(Ile455Val) - - - -
./. - - c.1371G>A p.(=) - - - -
./. - - c.1393-7del p.(=) - - - -
./. - - c.1516G>A p.(Val506Ile) - - - -
./. - - c.1554-1G>A p.? - - - -
+/+ - 15/19 c.1669C>T p.(Arg557*) - stop_gained - -
./. - - c.1669C>T p.(Arg557*) - - - -
./. - - c.1783A>G p.(Thr595Ala) - - - -
+/+ - 16/19 c.1783A>G p.(Thr595Ala) probably_damaging(0.92) missense_variant - deleterious(0.02)
+/+ - 16/19 c.1855G>A p.(Asp619Asn) probably_damaging(1) missense_variant - deleterious(0.01)
./. - - c.1855G>A p.(Asp619Asn) - - - -
./. - - c.2006A>G p.(Asn669Ser) - - - -
./. - - c.2129G>A p.(Cys710Tyr) - - - -
./. - - 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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