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

Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium