Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium