View genomic variant #0000005184

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) 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 3 reported entries
MSCV MSCV_0005184
dbSNP ID rs28940874
Frequency -
Sources ; ensembl;
Reference 11134486
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.


Transcript ID     


Variant ID     

Affects function     



DNA change (cDNA)     



GVS function     

Splice distance     

ACADS 00000386 NM_000017.2 0000005184 ./. - 5/10 c.575C>T p.(Ala192Val) probably_damaging(0.968) missense_variant - deleterious(0)
ACADS 00000385 XM_005253878.1 0000005184 ./. - - c.473-110C>T p.(=) - - - -

ClinVar @ MSeqDR

RCVaccession RCV000004038;
Chromosome 12:121175742..121175742
Allele frequencies from ExAC 0.00004
ClinVar Allele ID 18873
Disease database name and identifier MedGen:C0342783, OMIM:201470, Orphanet:ORPHA26792, SNOMED CT:124166007
ClinVar preferred disease name Deficiency of butyryl-CoA dehydrogenase
HGVS variant names NC 000012.11:g.121175742C>T
ClinVar review status criteria provided, single submitter
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:606885.0010|UniProtKB (protein):P16219#VAR 013568
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 28940874
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

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