View unique variants in gene AK2

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

23 entries on 1 page. Showing entries 1 - 23.
Legend  

Effect     

Reported     

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     
+/+, ./. 2 - 1/6 c.1A>G p.? - initiator_codon_variant - - 1 Unknown subst g.33502429T>C - 4.920 - AK2_000006 MSCV_0000022 rs137853206 - ; clinvar, , clinVar; Ensembl; 19043417 - - -
./. 1 - 1/6 c.25G>A p.(Glu9Lys) - missense_variant - - 1 Unknown subst g.33502405C>T - 0.873 - AK2_000005 MSCV_0000021 rs267606647 - ; 19043416 - - -
+/+, ./. 2 - 1/6 c.25G>T p.(Glu9*) - stop_gained - - 1 Unknown subst g.33502405C>A - 0.873 - AK2_000010 MSCV_0001795 rs267606647 - ; clinvar, , clinVar; Ensembl; 19043416 - - -
./. 1 - - c.49C>G p.(Arg17Gly) - - - - 1 Unknown - g.33502381G>C - - - AK2_000024 MSCV_0015290 - - ; clinvar; - - - -
+/+, ./. 2 - - c.118del p.(Cys40Valfs*5) - - - - 1 Unknown del g.33490144del - 5.150 - AK2_000004 MSCV_0000020 rs387906581 - ; clinvar, , clinVar; Ensembl; 19043417 - - -
./. 1 - - c.199A>G p.(Thr67Ala) - - - - 1 Unknown - g.33490063T>C - - - AK2_000023 MSCV_0015288 - - ; clinvar; - - - -
./. 1 - - c.220-5del p.? - - - - 1 Unknown - g.33487309del - - - AK2_000022 MSCV_0015287 - - ; clinvar; - - - -
./. 1 - - c.255G>A p.(=) - - - - 1 Unknown - g.33487269C>T - - - AK2_000021 MSCV_0015286 - - ; clinvar; - - - -
./. 1 - - c.277A>G p.(Lys93Glu) - - - - 1 Unknown - g.33487247T>C - - - AK2_000020 MSCV_0015285 - - ; clinvar; - - - -
+/+ 1 - 3/6 c.307C>A p.(=) - synonymous_variant - - 1 Unknown subst g.33487217G>T - 4.460 - AK2_000003 MSCV_0000019 rs267606648 - ; clinVar; Ensembl; 19043416 - - -
+/+, ./. 2 - 3/6 c.307C>T p.(Arg103Trp) - missense_variant - - 1 Unknown subst g.33487217G>A - 4.460 - AK2_000002 MSCV_0000018 rs267606648 - ; clinvar, , clinVar; Ensembl; 19043416 - - -
./. 1 - - c.386G>A p.(Ser129Asn) - - - - 1 Unknown - g.33487007C>T - - - AK2_000019 MSCV_0015283 - - ; clinvar; - - - -
./. 1 - - c.429del p.(Tyr144Thrfs*12) - - - - 1 Unknown - g.33480168del - - - AK2_000018 MSCV_0015282 - - ; clinvar; - - - -
+/+, ./. 2 - 5/6 c.470A>G p.(Asp157Gly) - missense_variant - - 1 Unknown subst g.33480127T>C - 5.120 - AK2_000001 MSCV_0000017 rs267606643 - ; clinvar, , clinVar; Ensembl; 19043416 - - -
./. 1 - - c.480C>T p.(=) - - - - 1 Unknown - g.33478998G>A - - - AK2_000017 MSCV_0015280 - - ; clinvar; - - - -
./. 1 - - c.499del p.(Arg167Aspfs*9) - - - - 1 Unknown - g.33478979del - - - AK2_000016 MSCV_0015279 - - ; clinvar; - - - -
+/+ 1 - 6/6 c.524T>A p.(Leu175*) - stop_gained - - 1 Unknown subst g.33478954A>T - 5.170 - AK2_000009 MSCV_0000016 rs267606644 - ; clinVar; Ensembl; 19043416 - - -
+/+, ./. 2 - 6/6 c.532C>T p.(Arg178Cys) - missense_variant - - 1 Unknown subst g.33478946G>A - 5.170 - AK2_000008 MSCV_0000015 rs267606645 - ; clinvar, , clinVar; Ensembl; 19043416 - - -
./. 1 - - c.547C>G p.(His183Asp) - - - - 1 Unknown - g.33478931G>C - - - AK2_000015 MSCV_0015277 - - ; clinvar; - - - -
./. 1 - - c.579C>T p.(=) - - - - 1 Unknown - g.33478899G>A - - - AK2_000014 MSCV_0015276 - - ; clinvar; - - - -
./. 1 - - c.601G>A p.(Ala201Thr) - - - - 1 Unknown - g.33478877C>T - - - AK2_000012 MSCV_0015275 - - ; clinvar; - - - -
./. 1 - - c.606C>T p.(=) - - - - 1 Unknown - g.33478872G>A - - - AK2_000013 MSCV_0015274 - - ; clinvar; - - - -
+/+, ./. 2 - - c.670+3A>T p.? - - - - 1 Unknown subst g.33478805T>A - 5.510 - AK2_000007 MSCV_0000014 rs267606646 - ; clinvar, , clinVar; Ensembl; 19043416 - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium