View all transcript variants in gene ELAC2

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. - - c.1147C>T p.(Leu383Phe) - - - - 17 Unknown - g.12905628G>A - - - ELAC2_000002 MSCV_0000710 - - ; clinvar; - - - -
+/+ - 13/23 c.1147C>T p.(Leu383Phe) benign(0.41) missense_variant - tolerated(0.22) 17 Unknown subst g.12905628G>A - 4.830 - ELAC2_000002 MSCV_0000710 rs397515466 - ; clinvar; 23849775 - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium