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     
+/+ - 5/6 c.470A>G p.(Asp157Gly) - missense_variant - - 1 Unknown subst g.33480127T>C - 5.120 - AK2_000001 MSCV_0000017 rs267606643 - ; clinVar; Ensembl; 19043416 - - -
./. - - c.470A>G p.(Asp157Gly) - - - - 1 Unknown - g.33480127T>C - - - AK2_000001 MSCV_0000017 - - ; clinvar; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium