Genomic variant #0000000073

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.120302538C>T
Published as -
GERP 5.320
Segregation -
DB-ID HMGCS2_000003
dbSNP ID rs137852638
Frequency -
Sources ; clinVar; Ensembl;
Reference 11479731
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00023 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 +/+ - - c.560-633G>A p.(=) - - - -
HMGCS2 NM_005518.3 +/+ - 3/10 c.634G>A p.(Gly212Arg) probably_damaging(1) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.0002
0.00023
24298
MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701|MedGen:CN517202
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency|not provided
HGVS variant names NC 000001.10:g.120302538C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:819964|OMIM Allelic Variant:600234.0003|UniProtKB (protein):P54868#VAR 032759
Gene symbol:Gene id. HMGCS2:3158
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 137852638
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
rs1378526381120302538120302538C/TOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs1378526381120302538120302538C/TOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0123801120302538120302538HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available