View genomic variant #0000002181

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.121175696T>G
Published as -
GERP 5.160
Segregation -
DB-ID ACADS_000018 See all 2 reported entries
MSCV MSCV_0002181
dbSNP ID rs57443665
Frequency -
Sources ; clinvar;
Reference 9499414
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 0000002181 +/+ - 5/10 c.529T>G p.(Trp177Gly) probably_damaging(0.961) missense_variant - deleterious(0)
ACADS 00000385 XM_005253878.1 0000002181 ./. - - c.473-156T>G p.(=) - - - -

ClinVar @ MSeqDR

RCVaccession RCV000004032; RCV000185684;
Chromosome 12:121175696..121175696
Allele frequencies from ESP 0.0023
Allele frequencies from ExAC 0.00055
Allele frequencies from TGP 0.0020
ClinVar Allele ID 18867
Disease database name and identifier MedGen:C0342783, OMIM:201470, Orphanet:ORPHA26792, SNOMED CT:124166007|MedGen:CN517202
ClinVar preferred disease name Deficiency of butyryl-CoA dehydrogenase|not provided
HGVS variant names NC 000012.11:g.121175696T>C
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic/Likely pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:606885.0004|UniProtKB (protein):P16219#VAR 000314
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 57443665
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

rs5744366512121175696121175696T/G/CC0.0014OMIM phenotype variantsSCAD DEFICIENCY
rs5744366512121175696121175696T/G/CC0.0014OMIM phenotype variantsAcyl-CoA dehydrogenase short-chain deficiency
rs5744366512121175696121175696T/G/CC0.0014OMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM98000912121175696121175696HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available