View genomic variant #0000000073

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.120302538C>T
Published as -
GERP 5.320
Segregation -
DB-ID HMGCS2_000003 See all 2 reported entries
MSCV MSCV_0000073
dbSNP ID rs137852638
Frequency -
Sources ; clinVar; Ensembl;
Reference 11479731
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00023 View details
Owner LOVD

Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.


Transcript ID     


Variant ID     

Affects function     



DNA change (cDNA)     



GVS function     

Splice distance     

HMGCS2 00000819 NM_001166107.1 0000000073 +/+ - - c.560-633G>A p.(=) - - - -
HMGCS2 00000820 NM_005518.3 0000000073 +/+ - 3/10 c.634G>A p.(Gly212Arg) probably_damaging(1) missense_variant - deleterious(0)

ClinVar @ MSeqDR

RCVaccession RCV000009841; RCV000498667;
Chromosome 1:120302538..120302538
Allele frequencies from ESP 0.0002
Allele frequencies from ExAC 0.00023
ClinVar Allele ID 24298
Disease database name and identifier MedGen:C2751532, OMIM:605911, Orphanet:ORPHA35701|MedGen:CN517202
ClinVar preferred disease name mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency|not provided
HGVS variant names NC 000001.10:g.120302538C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:819964|OMIM Allelic Variant:600234.0003|UniProtKB (protein):P54868#VAR 032759
Gene symbol:Gene id. HMGCS2:3158
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 137852638
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

rs1378526381120302538120302538C/TOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs1378526381120302538120302538C/TOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0123801120302538120302538HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available