View all transcript variants in gene AK2

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

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/+ - 1/6 c.1A>G p.? - initiator_codon_variant - - subst g.33502429T>C - 4.920 - AK2_000006 rs137853206 - ; clinVar; Ensembl; 19043417 - - LOVD
./. - 1/6 c.25G>A p.(Glu9Lys) - missense_variant - - subst g.33502405C>T - 0.873 - AK2_000005 rs267606647 - ; 19043416 - - LOVD
+/+ - 1/6 c.25G>T p.(Glu9*) - stop_gained - - subst g.33502405C>A - 0.873 - AK2_000010 rs267606647 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - - c.118del p.(Cys40Valfs*5) - - - - del g.33490144del - 5.150 - AK2_000004 rs387906581 - ; clinVar; Ensembl; 19043417 - - LOVD
+/+ - 3/6 c.307C>A p.(=) - synonymous_variant - - subst g.33487217G>T - 4.460 - AK2_000003 rs267606648 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - - subst g.33487217G>A - 4.460 - AK2_000002 rs267606648 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - 5/6 c.470A>G p.(Asp157Gly) - missense_variant - - subst g.33480127T>C - 5.120 - AK2_000001 rs267606643 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - 6/6 c.524T>A p.(Leu175*) - stop_gained - - subst g.33478954A>T - 5.170 - AK2_000009 rs267606644 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - 6/6 c.532C>T p.(Arg178Cys) - missense_variant - - subst g.33478946G>A - 5.170 - AK2_000008 rs267606645 - ; clinVar; Ensembl; 19043416 - - LOVD
+/+ - - c.670+3A>T p.? - - - - subst g.33478805T>A - 5.510 - AK2_000007 rs267606646 - ; clinVar; Ensembl; 19043416 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium