View genomic variant #0000005185

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.121176971C>T
Published as -
GERP 4.730
Segregation -
DB-ID ACADS_000005 See all 3 reported entries
MSCV MSCV_0005185
dbSNP ID rs28941773
Frequency -
Sources ; ensembl;
Reference 11134486
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00016 View details
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 0000005185 ./. - 9/10 c.1058C>T p.(Ser353Leu) probably_damaging(1) missense_variant - deleterious(0)
ACADS 00000385 XM_005253878.1 0000005185 ./. - 9/10 c.1046C>T p.(Ser349Leu) probably_damaging(0.999) missense_variant - deleterious(0)

ClinVar @ MSeqDR

RCVaccession RCV000004040; RCV000185693;
Chromosome 12:121176971..121176971
Allele frequencies from ESP 0.0002
Allele frequencies from ExAC 0.00012
ClinVar Allele ID 18875
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.121176971C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(3), Pathogenic(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:606885.0012|UniProtKB (protein):P16219#VAR 013570
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 28941773
Variant Flags

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:


Ensembl Variant Phenotype Information:

rs2894177312121176971121176971C/TOMIM phenotype variantsSCAD DEFICIENCY
rs2894177312121176971121176971C/TOMIM phenotype variantsAcyl-CoA dehydrogenase short-chain deficiency
rs2894177312121176971121176971C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM01000812121176971121176971HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available