Unique variants in gene SLC16A2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_006517.4 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 - - c.97T>C - - - - - - g.73641569T>C - - - SLC16A2_000004 - - ; clinvar; - - - LOVD
./. 1 - - c.359C>T - - - - - - g.73641831C>T - - - SLC16A2_000003 - - ; clinvar; - - - LOVD
./. 1 - - c.873A>T - - - - - - g.73744491A>T - - - SLC16A2_000002 - - ; clinvar; - - - LOVD
./. 1 - - c.1275_1277del - - - - - - g.73749152_73749154del - - - SLC16A2_000001 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium