Transcript #00000204

Transcript name transcript variant 2
Gene name NDUFS1 (NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase))
Chromosome 2
Transcript - NCBI ID NM_001199981.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001186910.1
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.-47C>G p.(=) - - - -
./. - - c.64C>T p.(Arg22*) - - - -
./. - - c.123C>T p.(=) - - - -
./. - - c.154-839_154-838del p.(=) - - - -
./. - - c.154-15del p.(=) - - - -
./. - - c.154-15_154-14insT p.(=) - - - -
./. - - c.256G>A p.(Ala86Thr) - - - -
./. - - c.288C>A p.(Asp96Glu) - - - -
./. - - c.306T>C p.(=) - - - -
./. - - c.313-7A>G p.(=) - - - -
./. - - c.443+14C>A p.(=) - - - -
./. - - c.558_560del p.(Ile187del) - - - -
+/+ - - c.558_560del p.(Ile187del) - - - -
./. - 7/18 c.571C>T p.(Pro191Ser) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.575T>C p.(Val192Ala) - - - -
+/+ - 7/18 c.583C>G p.(Leu195Val) probably_damaging(0.999) missense_variant - deleterious(0)
./. - - c.583C>G p.(Leu195Val) - - - -
+/+ - 7/18 c.613C>T p.(Arg205Trp) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.613C>T p.(Arg205Trp) - - - -
./. - - c.629+1G>A p.? - - - -
+/+ - 8/18 c.647A>G p.(Asp216Gly) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.647A>G p.(Asp216Gly) - - - -
./. - - c.650T>G p.(Val217Gly) - - - -
./. - - c.737A>G p.(Asn246Ser) - - - -
./. - - c.800C>G p.(Thr267Ser) - - - -
./. - - c.858G>T p.(=) - - - -
./. - - c.867C>T p.(=) - - - -
./. - - c.1012A>G p.(Thr338Ala) - - - -
./. - - c.1114C>T p.(Arg372Cys) - - - -
+/+ - 11/18 c.1114C>T p.(Arg372Cys) possibly_damaging(0.711) missense_variant - deleterious(0)
./. - - c.1141A>G p.(Arg381Gly) - - - -
./. - - c.1143A>G p.(=) - - - -
./. - - c.1183C>G p.(Leu395Val) - - - -
./. - - c.1255A>G p.(Ile419Val) - - - -
./. - - c.1263G>A p.(=) - - - -
./. - - c.1285-7del p.(=) - - - -
./. - - c.1408G>A p.(Val470Ile) - - - -
./. - - c.1446-1G>A p.? - - - -
+/+ - 14/18 c.1561C>T p.(Arg521*) - stop_gained - -
./. - - c.1561C>T p.(Arg521*) - - - -
+/+ - 15/18 c.1675A>G p.(Thr559Ala) probably_damaging(0.92) missense_variant - deleterious(0.01)
./. - - c.1675A>G p.(Thr559Ala) - - - -
+/+ - 15/18 c.1747G>A p.(Asp583Asn) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1747G>A p.(Asp583Asn) - - - -
./. - - c.1898A>G p.(Asn633Ser) - - - -
./. - - c.2021G>A p.(Cys674Tyr) - - - -
./. - - 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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