View genomic variant #0000000495

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121175742C>T
Published as -
GERP 4.950
Segregation -
DB-ID ACADS_000001 See all 2 reported entries
dbSNP ID rs28940874
Frequency -
Sources ; clinvar;
Reference 11134486
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     
ACADS NM_000017.2 +/+ - 5/10 c.575C>T p.(Ala192Val) probably_damaging(0.968) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.00004
18873
MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007
Deficiency of butyryl-CoA dehydrogenase
HGVS variant names NC 000012.11:g.121175742C>T
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:606885.0010,UniProtKB (protein):P16219#VAR 013568
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 28940874
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
rs2894087412121175742121175742C/TOMIM phenotype variantsSCAD DEFICIENCY
rs2894087412121175742121175742C/TOMIM phenotype variantsAcyl-CoA dehydrogenase short-chain deficiency
rs2894087412121175742121175742C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM01000612121175742121175742HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available