View genomic variant #0000000076

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.120307194C>T
Published as -
GERP 4.720
Segregation -
DB-ID HMGCS2_000006 See all 2 reported entries
MSCV MSCV_0000076
dbSNP ID rs28937320
Frequency -
Sources ; clinVar; Ensembl;
Reference 12647205
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000076 +/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)
HMGCS2 00000820 NM_005518.3 0000000076 +/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)

ClinVar @ MSeqDR

RCVaccession RCV000009843;
Chromosome 1:120307194..120307194
ClinVar Allele ID 24300
Disease database name and identifier MedGen:C2751532, OMIM:605911, Orphanet:ORPHA35701
ClinVar preferred disease name mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HGVS variant names NC 000001.10:g.120307194C>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:600234.0005|UniProtKB (protein):P54868#VAR 032757
Gene symbol:Gene id. HMGCS2:3158
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28937320
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

rs289373201120307194120307194C/TOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs289373201120307194120307194C/TOMIM phenotype variantsHMG-CoA synthase deficiency
rs289373201120307194120307194C/TOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0329421120307194120307194HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available