View genomic variant #0000000501

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.121177159C>T
Published as -
GERP 4.740
Segregation -
DB-ID ACADS_000007 See all 3 reported entries
MSCV MSCV_0000501
dbSNP ID rs28940872
Frequency -
Sources ; clinvar;
Reference 11134486;9499414
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00054 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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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 0000000501 +/+ - 10/10 c.1147C>T p.(Arg383Cys) probably_damaging(1) missense_variant - deleterious(0)
ACADS 00000385 XM_005253878.1 0000000501 ./. - - c.1135C>T p.(Arg379Cys) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000004033; RCV000185700;
Chromosome 12:121177159..121177159
Allele frequencies from ESP 0.0005
Allele frequencies from ExAC 0.00014
Allele frequencies from TGP 0.0002
ClinVar Allele ID 18868
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.121177159C>T
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:606885.0005|UniProtKB (protein):P16219#VAR 000316
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 28940872
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
rs2894087212121177159121177159C/TOMIM phenotype variantsSCAD DEFICIENCY
rs2894087212121177159121177159C/TOMIM phenotype variantsAcyl-CoA dehydrogenase short-chain deficiency
rs2894087212121177159121177159C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM98001112121177159121177159HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available