Genomic variant #0000000076

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.120307194C>T
Published as -
GERP 4.720
Segregation -
DB-ID HMGCS2_000006
dbSNP ID rs28937320
Frequency -
Sources ; clinVar; Ensembl;
Reference 12647205
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 +/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)
HMGCS2 NM_005518.3 +/+ - 2/10 c.160G>A p.(Val54Met) probably_damaging(1) missense_variant - deleterious(0)


ClinVar @ MSeqDR

24300
MedGen:C2751532,OMIM:605911,Orphanet:ORPHA35701
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HGVS variant names NC 000001.10:g.120307194C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:600234.0005|UniProtKB (protein):P54868#VAR 032757
Gene symbol:Gene id. HMGCS2:3158
SO:0001583|missense variant
1
dbSNP ID 28937320
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
rs289373201120307194120307194C/TOMIM phenotype variantsMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
rs289373201120307194120307194C/TOMIM phenotype variantsHMG-CoA synthase deficiency
rs289373201120307194120307194C/TOMIM phenotype variantsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
CM0329421120307194120307194HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available