Transcript #00000004

Transcript name transcript variant 1
Gene name MFN2 (mitofusin 2)
Chromosome 1
Transcript - NCBI ID NM_014874.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055689.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)
?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
?/? - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - deleterious(0)
?/? - 8/18 c.827A>G - r.(?) p.(Gln276Arg) benign(0.079) missense_variant - deleterious(0)
?/? - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.*1488C>T - r.(=) p.(=) - - - -
./. - - c.*1539G>A - r.(=) p.(=) - - - -
./. - - c.*1576C>T - r.(=) p.(=) - - - -
./. - - c.*1706T>G - r.(=) p.(=) - - - -
./. - - c.*1794_*1796del - r.(=) p.(=) - - - -
./. - - c.*1795_*1797del - r.(=) p.(=) - - - -
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