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

40 entries on 1 page. Showing entries 1 - 40.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.205G>T - r.(?) p.(Val69Phe) - - - -
./. - - c.227T>C - r.(?) p.(Leu76Pro) - - - -
?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.280C>T - r.(?) p.(Arg94Trp) - - - -
./. - - c.281G>A - r.(?) p.(Arg94Gln) - - - -
./. - - c.310C>T - r.(?) p.(Arg104Trp) - - - -
?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0)
./. - - c.436C>T - r.(?) p.(Leu146Phe) - - - -
./. - - c.479T>G - r.(?) p.(Val160Gly) - - - -
./. - - c.493C>G - r.(?) p.(His165Asp) - - - -
./. - - c.494A>G - r.(?) p.(His165Arg) - - - -
./. - - c.526G>A - r.(?) p.(Gly176Ser) - - - -
./. - - c.617C>T - r.(?) p.(Thr206Ile) - - - -
?/? - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - deleterious(0)
./. - - c.707C>T - r.(?) p.(Thr236Met) - - - -
./. - - c.720C>G - r.(?) p.(Phe240Leu) - - - -
./. - - c.730G>A - r.(?) p.(Val244Met) - - - -
./. - - c.730G>T - r.(?) p.(Val244Leu) - - - -
./. - - c.746C>T - r.(?) p.(Ser249Phe) - - - -
./. - - c.751C>G - r.(?) p.(Pro251Ala) - - - -
./. - - c.775C>T - r.(?) p.(Arg259Cys) - - - -
./. - - c.827A>G - r.(?) p.(Gln276Arg) - - - -
?/? - 8/18 c.827A>G - r.(?) p.(Gln276Arg) benign(0.079) missense_variant - deleterious(0)
./. - - c.839G>A - r.(?) p.(Arg280His) - - - -
./. - - c.1071G>C - r.(?) p.(Lys357Asn) - - - -
./. - - c.1085C>T - r.(?) p.(Thr362Met) - - - -
?/? - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.1090C>T - r.(?) p.(Arg364Trp) - - - -
./. - - c.1126A>G - r.(?) p.(Met376Val) - - - -
./. - - c.1143_1145del - r.(?) p.(Ala383del) - - - -
./. - - c.1148C>T - r.(?) p.(Ala383Val) - - - -
./. - - c.1392+2T>C - r.spl? p.? - - - -
./. - - c.1403G>A - r.(?) p.(Arg468His) - - - -
./. - - c.1426C>G - r.(?) p.(Arg476Gly) - - - -
./. - - c.1555C>T - r.(?) p.(Arg519Cys) - - - -
./. - - c.1837_1838insG - r.(?) p.(Thr614Aspfs*35) - - - -
./. - - c.1946G>C - r.(?) p.(Arg649Pro) - - - -
./. - - c.2119C>T - r.(?) p.(Arg707Trp) - - - -
./. - - c.2219G>C - r.(?) p.(Trp740Ser) - - - -
./. - - c.2256C>A - r.(?) p.(Tyr752*) - - - -
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