View genomic variant #0000000074

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.120306834A>G
Published as -
GERP 5.040
Segregation -
DB-ID HMGCS2_000004 See all 2 reported entries
MSCV MSCV_0000074
dbSNP ID rs137852636
Frequency -
Sources ; clinVar; Ensembl;
Reference 11228257;9337379
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.
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 0000000074 +/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11)
HMGCS2 00000820 NM_005518.3 0000000074 +/+ - 2/10 c.520T>C p.(Phe174Leu) probably_damaging(0.997) missense_variant - tolerated(0.11)
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000009839;
Chromosome 1:120306834..120306834
Allele frequencies from ExAC 0.00012
ClinVar Allele ID 24296
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.120306834A>G
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:600234.0001|UniProtKB (protein):P54868#VAR 032711
Gene symbol:Gene id. HMGCS2:3158
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 137852636
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
rs1378526361120306834120306834A/GOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs1378526361120306834120306834A/GOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0113661120306834120306834HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available