Unique variants in gene HMGCS2

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

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

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 - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0) subst g.120307194C>T - 4.720 - HMGCS2_000006 rs28937320 - ; clinVar; Ensembl; 12647205 - - LOVD
+/+ 1 - 2/10 c.500A>G p.(Tyr167Cys) probably_damaging(1) missense_variant - deleterious(0) subst g.120306854T>C - 5.040 - HMGCS2_000005 rs137852640 - ; clinVar; Ensembl; 12647205 - - LOVD
+/+ 1 - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11) subst g.120306834A>G - 5.040 - HMGCS2_000004 rs137852636 - ; clinVar; Ensembl; 11228257;9337379 - - LOVD
+/+ 1 - - c.560-633G>A p.(=) - - - - subst g.120302538C>T - 5.320 - HMGCS2_000003 rs137852638 - ; clinVar; Ensembl; 11479731 - - LOVD
+/+ 1 - 6/9 c.1144C>T p.(Arg382*) - stop_gained - - subst g.120295927G>A - 3.510 - HMGCS2_000002 rs137852637 - ; clinVar; Ensembl; 11228257;9727719 - - LOVD
+/+ 1 - 8/9 c.1373G>A p.(Arg458His) possibly_damaging(0.812) missense_variant - deleterious(0) subst g.120293453C>T - 4.390 - HMGCS2_000001 rs137852639 - ; clinVar; Ensembl; 11479731 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium