View genomic variant #0000000071

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.120293453C>T
Published as -
GERP 4.390
Segregation -
DB-ID HMGCS2_000001 See all 2 reported entries
MSCV MSCV_0000071
dbSNP ID rs137852639
Frequency -
Sources ; clinVar; Ensembl;
Reference 11479731
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.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
HMGCS2 00000819 NM_001166107.1 0000000071 +/+ - 8/9 c.1373G>A p.(Arg458His) possibly_damaging(0.812) missense_variant - deleterious(0)
HMGCS2 00000820 NM_005518.3 0000000071 +/+ - 9/10 c.1499G>A p.(Arg500His) benign(0.059) missense_variant - deleterious(0.01)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009842;
Chromosome 1:120293453..120293453
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 24299
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.120293453C>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:600234.0004
Gene symbol:Gene id. HMGCS2:3158
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137852639
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs1378526391120293453120293453C/TOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs1378526391120293453120293453C/TOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0123811120293453120293453HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available