View genomic variant #0000000495

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_0000495
dbSNP ID rs28940874
Frequency -
Sources ; clinvar;
Reference 11134486
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000495 +/+ - 5/10 c.575C>T p.(Ala192Val) probably_damaging(0.968) missense_variant - deleterious(0)
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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:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
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