View all transcript variants in gene AK2

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     
+/+ - 1/6 c.25G>T p.(Glu9*) - stop_gained - - 1 Unknown subst g.33502405C>A - 0.873 - AK2_000010 MSCV_0001795 rs267606647 - ; clinVar; Ensembl; 19043416 - - -
./. - - c.25G>T p.(Glu9*) - - - - 1 Unknown - g.33502405C>A - - - AK2_000010 MSCV_0001795 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium