View genomic variant #0000000072

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.120295927G>A
Published as -
GERP 3.510
Segregation -
DB-ID HMGCS2_000002
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
HMGCS2 NM_001166107.1 +/+ - 6/9 c.1144C>T p.(Arg382*) - stop_gained - -
HMGCS2 NM_005518.3 +/+ - 7/10 c.1270C>T p.(Arg424*) - stop_gained - -


ClinVar @ MSeqDR

0.0001
0.00003
24297
MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HGVS variant names NC 000001.10:g.120295927G>A
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:438436,OMIM Allelic Variant:600234.0002
Gene symbol:Gene id. HMGCS2:3158
SO:0001587|nonsense
1
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