View all transcript variants in gene WARS2

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

7 entries on 1 page. Showing entries 1 - 7.
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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.37T>G p.(Trp13Gly) - - - - 1 Unknown - g.119683231A>C - - - WARS2_000003 MSCV_0015511 - - ; clinvar; - - - -
./. - - c.134G>T p.(Gly45Val) - - - - 1 Unknown - g.119619187C>A - - - WARS2_000002 MSCV_0015510 - - ; clinvar; - - - -
./. - - c.298_300del p.(Leu100del) - - - - 1 Unknown - g.119619021_119619023del - - - WARS2_000001 MSCV_0015509 - - ; clinvar; - - - -
./. - - c.325del p.(Ser109Alafs*15) - - - - 1 Unknown - g.119618996del - - - WARS2_000006 MSCV_0015508 - - ; clinvar; - - - -
./. - - c.446G>C p.(Cys149Ser) - - - - 1 Unknown - g.119576820C>G - - - WARS2_000005 MSCV_0015507 - - ; clinvar; - - - -
./. - - c.*132del p.(=) - - - - 1 Unknown - g.119575820del - - - WARS2_000004 MSCV_0015506 - - ; clinvar; - - - -
./. - - c.*273A>T p.(=) - - - - 1 Unknown - g.119575679T>A - - - WARS2_000007 MSCV_0015505 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium