View genomic variant #0000000072

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.120295927G>A
Published as -
GERP 3.510
Segregation -
DB-ID HMGCS2_000002 See all 2 reported entries
MSCV MSCV_0000072
dbSNP ID rs137852637
Frequency -
Sources ; clinVar; Ensembl;
Reference 11228257;9727719
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
Owner LOVD




Variant on transcripts

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

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 0000000072 +/+ - 6/9 c.1144C>T p.(Arg382*) - stop_gained - -
HMGCS2 00000820 NM_005518.3 0000000072 +/+ - 7/10 c.1270C>T p.(Arg424*) - stop_gained - -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009840;
Chromosome 1:120295927..120295927
Allele frequencies from ESP 0.0001
Allele frequencies from ExAC 0.00003
ClinVar Allele ID 24297
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.120295927G>A
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported Illumina Clinical Services Laboratory, Illumina:438436|OMIM Allelic Variant:600234.0002
Gene symbol:Gene id. HMGCS2:3158
Molecular consequence SO:0001587|nonsense
Allele origin germline
dbSNP ID 137852637
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
rs1378526371120295927120295927G/AOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs1378526371120295927120295927G/AOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0113671120295927120295927HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available