Transcript #00000950

Transcript name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 3
Gene name NDUFAF3 (NADH dehydrogenase (ubiquinone) complex I, assembly factor 3)
Chromosome 3
Transcript - NCBI ID NM_199073.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_951047.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-95+257T>C p.(=) - - - -
./. - - c.-95+376A>G p.(=) - - - -
./. - - c.-95+377C>T p.(=) - - - -
./. - - c.-95+383C>G p.(=) - - - -
./. - - c.-94-450C>T p.(=) - - - -
./. - - c.-94-442C>T p.(=) - - - -
./. - - c.-94-328G>C p.(=) - - - -
./. - - c.-94-327G>C p.(=) - - - -
./. - - c.-94-319G>A p.(=) - - - -
./. - - c.-94-200T>C p.(=) - - - -
+/+ - - c.-94-200T>C p.(=) - - - -
./. - - c.-94-164C>T p.(=) - - - -
./. - - c.9_10insT p.(Asp4*) - - - -
./. - 2/5 c.23G>C p.(Ser8Thr) benign(0.062) missense_variant - tolerated(0.65)
+/+ - 2/5 c.58G>C p.(Gly20Arg) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.58G>C p.(Gly20Arg) - - - -
./. - - c.141C>A p.(=) - - - -
./. - - c.167-12A>C p.(=) - - - -
+/+ - 4/5 c.194G>C p.(Arg65Pro) probably_damaging(0.948) missense_variant - tolerated(0.17)
./. - - c.194G>C p.(Arg65Pro) - - - -
./. - - c.215A>G p.(Gln72Arg) - - - -
./. - - c.267+9C>T p.(=) - - - -
./. - - c.379C>T p.(Gln127*) - - - -
./. - - c.380A>G p.(Gln127Arg) - - - -
./. - - c.*169G>C p.(=) - - - -
./. - - c.*194G>C p.(=) - - - -
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