View all transcript variants in gene MFN2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
?/? - 4/4 c.280C>T - r.(?) p.(Arg94Trp) probably_damaging(0.995) missense_variant - deleterious(0) subst g.12052716C>T - 3.570 - MFN2_000005 rs119103263 - ; 16835246;16437557;15064763 - - LOVD
?/? - 3/18 c.310C>T - r.(?) p.(Arg104Trp) probably_damaging(0.999) missense_variant,splice_region_variant - deleterious(0) subst g.12052746C>T - 2.200 - MFN2_000003 rs119103268 - ; 18425620;18946002;25025039;21840889;21531138 - - LOVD
?/? - 6/18 c.617C>T - r.(?) p.(Thr206Ile) benign(0.302) missense_variant - deleterious(0) subst g.12058844C>T - 5.200 - MFN2_000004 rs119103266 - ; 16437557 - - LOVD
?/? - 8/18 c.827A>G - r.(?) p.(Gln276Arg) benign(0.079) missense_variant - deleterious(0) subst g.12061468A>G - 5.230 - MFN2_000001 rs119103264 - ; 16437557 - - LOVD
?/? - 10/18 c.1090C>T - r.(?) p.(Arg364Trp) probably_damaging(0.996) missense_variant - deleterious(0) subst g.12062090C>T - 4.700 - MFN2_000002 rs119103265 - ; 16437557;16835246 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium