Unique variants in gene SLC2A1

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_006516.2 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.937T>C p.(Ser313Pro) - - - - - g.43394916A>G - - - SLC2A1_000001 - - ; clinvar; - - - LOVD
./. 1 - - c.987G>A p.(=) - - - - - g.43394690C>T - - - SLC2A1_000003 - - ; clinvar; - - - LOVD
./. 1 - - c.1272T>G p.(Tyr424*) - - - - - g.43393282A>C - - - SLC2A1_000002 - - ; clinvar; - - - LOVD
./. 1 - - c.1366A>T p.(Lys456*) - - - - - g.43392825T>A - - - SLC2A1_000004 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium