All transcript variants in gene SLC19A2

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_006996.2 transcript reference sequence.

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

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     
./. - - c.205-14_205-13insT - - - - - - g.169447008_169447009insA - - - SLC19A2_000005 - - ; clinvar; - - - LOVD
./. - - c.212A>G - - - - - - g.169446988T>C - - - SLC19A2_000004 - - ; clinvar; - - - LOVD
./. - - c.561G>T - - - - - - g.169446639C>A - - - SLC19A2_000003 - - ; clinvar; - - - LOVD
./. - - c.1322T>C - - - - - - g.169437392A>G - - - SLC19A2_000002 - - ; clinvar; - - - LOVD
./. - - c.*255A>T - - - - - - g.169434832T>A - - - SLC19A2_000001 - - ; clinvar; - - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium