Transcript #00000326

Transcript name transcript variant X1
Gene name TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast))
Chromosome X
Transcript - NCBI ID XM_005262092.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005262149.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

16 entries on 1 page. Showing entries 1 - 16.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.70G>T p.(Glu24*) - - - -
./. - - c.73del p.(Val25*) - - - -
+/+ - 1/2 c.112C>T p.(Gln38*) - stop_gained - -
./. - - c.112C>T p.(Gln38*) - - - -
./. - - c.116del p.(Met39Argfs*11) - - - -
./. - - c.127del p.(Cys43Valfs*7) - - - -
./. - - c.132+1850A>C p.(=) - - - -
./. - - c.132+1888_132+1897del p.(=) - - - -
+/+ - - c.132+1938C>G p.(=) - - - -
./. - - c.132+1938C>G p.(=) - - - -
+/+ - - c.132+1978C>T p.(=) - - - -
./. - - c.132+1978C>T p.(=) - - - -
?/? - - c.132+2536_132+2537insTGA p.(=) - - - -
-/- - - c.132+2538_132+2539insGAT p.(=) - - - -
-/- - - c.132+2538_132+2539insTGA p.(=) - - - -
./. - - c.132+2539_132+2540insGAT p.(=) - - - -
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