Unique variants in gene ELAC2

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

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     
+/+ 1 - 5/23 c.460T>C p.(Phe154Leu) probably_damaging(0.985) missense_variant - deleterious(0) subst g.12917786A>G - 5.110 - ELAC2_000004 rs397515465 - ; clinvar; 23849775 - - LOVD
+/+ 1 - 8/23 c.631A>T p.(Arg211*) - stop_gained - - subst g.12909284T>A - 3.260 - ELAC2_000003 rs397515464 - ; clinvar; 23849775 - - LOVD
+/+ 1 - 13/23 c.1147C>T p.(Leu383Phe) benign(0.41) missense_variant - tolerated(0.22) subst g.12905628G>A - 4.830 - ELAC2_000002 rs397515466 - ; clinvar; 23849775 - - LOVD
+/+ 1 - 16/23 c.1439C>T p.(Thr480Ile) probably_damaging(0.983) missense_variant - deleterious(0) subst g.12899964G>A - 5.580 - ELAC2_000001 rs397515463 - ; clinvar; 23849775 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium