Full data view for gene HMGCS2

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

40 entries on 1 page. Showing entries 1 - 40.
Legend  

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     

MSCV     

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     
./. - - c.-36T>G p.(=) - - - - Unknown - g.120311503A>C - - - HMGCS2_000015 MSCV_0015546 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.-11C>T p.(=) - - - - Unknown - g.120311478G>A - - - HMGCS2_000014 MSCV_0015545 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.26A>G p.(Lys9Arg) - - - - Unknown - g.120311442T>C - - - HMGCS2_000013 MSCV_0015544 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.73C>G p.(Pro25Ala) - - - - Unknown - g.120311395G>C - - - HMGCS2_000012 MSCV_0015543 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.88C>G p.(Pro30Ala) - - - - Unknown - g.120311380G>C - - - HMGCS2_000011 MSCV_0015542 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.95C>T p.(Ala32Val) - - - - Unknown - g.120311373G>A - - - HMGCS2_000010 MSCV_0015541 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.120307194C>T - 4.720 - HMGCS2_000006 MSCV_0000076 rs28937320 - ; clinVar; Ensembl; 12647205 - - - - - - - - - - - - - - - - - - -
./. - - c.160G>A p.(Val54Met) - - - - Unknown - g.120307194C>T - - - HMGCS2_000006 MSCV_0000076 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.174C>T p.(=) - - - - Unknown - g.120307180G>A - - - HMGCS2_000009 MSCV_0015539 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.270G>A p.(=) - - - - Unknown - g.120307084C>T - - - HMGCS2_000008 MSCV_0015538 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.275G>A p.(Arg92His) - - - - Unknown - g.120307079C>T - - - HMGCS2_000007 MSCV_0015537 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 2/10 c.500A>G p.(Tyr167Cys) probably_damaging(1) missense_variant - deleterious(0) Unknown subst g.120306854T>C - 5.040 - HMGCS2_000005 MSCV_0000075 rs137852640 - ; clinVar; Ensembl; 12647205 - - - - - - - - - - - - - - - - - - -
./. - - c.500A>G p.(Tyr167Cys) - - - - Unknown - g.120306854T>C - - - HMGCS2_000005 MSCV_0000075 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11) Unknown subst g.120306834A>G - 5.040 - HMGCS2_000004 MSCV_0000074 rs137852636 - ; clinVar; Ensembl; 11228257;9337379 - - - - - - - - - - - - - - - - - - -
./. - - c.520T>C p.(Phe174Leu) - - - - Unknown - g.120306834A>G - - - HMGCS2_000004 MSCV_0000074 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.560-672G>A p.(=) - - - - Unknown - g.120302577C>T - - - HMGCS2_000033 MSCV_0015534 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.560-646C>T p.(=) - - - - Unknown - g.120302551G>A - - - HMGCS2_000032 MSCV_0015533 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - - c.560-633G>A p.(=) - - - - Unknown subst g.120302538C>T - 5.320 - HMGCS2_000003 MSCV_0000073 rs137852638 - ; clinVar; Ensembl; 11479731 - - - - - - - - - - - - - - - - - - -
./. - - c.560-633G>A p.(=) - - - - Unknown - g.120302538C>T - - - HMGCS2_000003 MSCV_0000073 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.646del p.(Ser216Profs*41) - - - - Unknown - g.120301819del - - - HMGCS2_000031 MSCV_0015531 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.725-14G>A p.(=) - - - - Unknown - g.120300075C>T - - - HMGCS2_000030 MSCV_0015530 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.732C>T p.(=) - - - - Unknown - g.120300054G>A - - - HMGCS2_000029 MSCV_0015529 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.736C>A p.(=) - - - - Unknown - g.120300050G>T - - - HMGCS2_000028 MSCV_0015528 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.891-2del p.? - - - - Unknown - g.120298222del - - - HMGCS2_000027 MSCV_0015527 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.952T>G p.(Ser318Ala) - - - - Unknown - g.120298159A>C - - - HMGCS2_000026 MSCV_0015526 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.998C>G p.(Ser333Cys) - - - - Unknown - g.120298113G>C - - - HMGCS2_000025 MSCV_0015525 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1110T>C p.(=) - - - - Unknown - g.120295961A>G - - - HMGCS2_000024 MSCV_0015524 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 6/9 c.1144C>T p.(Arg382*) - stop_gained - - Unknown subst g.120295927G>A - 3.510 - HMGCS2_000002 MSCV_0000072 rs137852637 - ; clinVar; Ensembl; 11228257;9727719 - - - - - - - - - - - - - - - - - - -
./. - - c.1144C>T p.(Arg382*) - - - - Unknown - g.120295927G>A - - - HMGCS2_000002 MSCV_0000072 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1293G>A p.(=) - - - - Unknown - g.120295173C>T - - - HMGCS2_000023 MSCV_0015522 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1294+13T>C p.(=) - - - - Unknown - g.120295159A>G - - - HMGCS2_000022 MSCV_0015521 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1299T>C p.(=) - - - - Unknown - g.120293527A>G - - - HMGCS2_000021 MSCV_0015520 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
+/+ - 8/9 c.1373G>A p.(Arg458His) possibly_damaging(0.812) missense_variant - deleterious(0) Unknown subst g.120293453C>T - 4.390 - HMGCS2_000001 MSCV_0000071 rs137852639 - ; clinVar; Ensembl; 11479731 - - - - - - - - - - - - - - - - - - -
./. - - c.1373G>A p.(Arg458His) - - - - Unknown - g.120293453C>T - - - HMGCS2_000001 MSCV_0000071 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1387C>T p.(Arg463Trp) - - - - Unknown - g.120293439G>A - - - HMGCS2_000020 MSCV_0015518 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.1396G>A p.(Val466Ile) - - - - Unknown - g.120293430C>T - - - HMGCS2_000019 MSCV_0015517 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*6-11_*6-8del p.(=) - - - - Unknown - g.120291472_120291475del - - - HMGCS2_000018 MSCV_0015516 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*78A>G p.(=) - - - - Unknown - g.120291392T>C - - - HMGCS2_000017 MSCV_0015515 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*165C>T p.(=) - - - - Unknown - g.120291305G>A - - - HMGCS2_000016 MSCV_0015514 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
./. - - c.*332A>C p.(=) - - - - Unknown - g.120291138T>G - - - HMGCS2_000034 MSCV_0015513 - - ; clinvar; - - - - - - - - - - - - - - - - - - - -
Legend  

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium