Transcript #00000208

Transcript name transcript variant 1
Gene name NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase))
Chromosome 1
Transcript - NCBI ID NM_004550.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004541.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-388G>A p.(=) - - - -
./. - - c.-388G>T p.(=) - - - -
./. - - c.-346G>A p.(=) - - - -
./. - - c.-298C>G p.(=) - - - -
./. - - c.-218G>A p.(=) - - - -
./. - - c.-159C>A p.(=) - - - -
./. - - c.-156G>A p.(=) - - - -
./. - - c.-28C>T p.(=) - - - -
./. - - c.-20C>T p.(=) - - - -
./. - - c.58C>A p.(Pro20Thr) - - - -
./. - - c.95+14C>T p.(=) - - - -
./. - - c.98G>A p.(Gly33Asp) - - - -
./. - - c.162A>G p.(=) - - - -
./. - - c.268G>A p.(Ala90Thr) - - - -
./. - - c.337A>G p.(Ile113Val) - - - -
./. - - c.441C>T p.(=) - - - -
./. - - c.514+11C>T p.(=) - - - -
./. - - c.515-3C>A p.? - - - -
./. - - c.628-12C>T p.(=) - - - -
+/+ - 6/13 c.683G>A p.? probably_damaging(1) missense_variant - deleterious(0)
./. - - c.683G>A p.(Arg228Gln) - - - -
./. - - c.686C>A p.(Pro229Gln) - - - -
+/+ - 6/13 c.686C>A p.? probably_damaging(1) missense_variant - deleterious(0)
./. - - c.702+12_702+13insCCGG p.(=) - - - -
./. - - c.867T>C p.(=) - - - -
./. - - c.903C>T p.(=) - - - -
./. - - c.959T>C p.(Val320Ala) - - - -
./. - - c.986+12A>G p.(=) - - - -
./. - - c.1054C>G p.(Pro352Ala) - - - -
./. - - c.1212+7A>G p.(=) - - - -
./. - - c.1213-10del p.(=) - - - -
./. - - c.1215A>G p.(=) - - - -
./. - - c.1237T>C p.(Ser413Pro) - - - -
+/+ - 12/13 c.1237T>C p.? probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.1290C>T p.(=) - - - -
./. - - c.1354+5G>A p.? - - - -
./. - - c.1354+10C>A p.(=) - - - -
./. - - c.*71_*76delinsTGCGTCTGTGTGTG p.(=) - - - -
./. - - c.*76_*77insTG p.(=) - - - -
./. - - c.*76_*77insTGTGTG p.(=) - - - -
./. - - c.*77_*78del p.(=) - - - -
./. - - c.*106_*107insTA p.(=) - - - -
./. - - c.*108A>T p.(=) - - - -
./. - - c.*114A>G p.(=) - - - -
./. - - c.*187G>A p.(=) - - - -
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