View genomic variant #0000000499

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_0000499
dbSNP ID rs28941773
Frequency -
Sources ; clinvar;
Reference 11134486
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00016 View details
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS 00000386 NM_000017.2 0000000499 +/+ - 9/10 c.1058C>T p.(Ser353Leu) probably_damaging(1) missense_variant - deleterious(0)
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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:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
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