View genomic variant #0000000493

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.121175678C>T
Published as -
GERP 2.100
Segregation -
DB-ID ACADS_000010 See all 2 reported entries
MSCV MSCV_0000493
dbSNP ID rs1800556
Frequency -
Sources ; clinvar;
Reference 9499414;11134486;19800078
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.03429 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 0000000493 +/+ - 5/10 c.511C>T p.(Arg171Trp) benign(0.006) missense_variant - deleterious(0.02)
ACADS 00000385 XM_005253878.1 0000000493 +/+ - - c.473-174C>T p.(=) - - - -
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ClinVar @ MSeqDR

RCVaccession RCV000004034; RCV000185683; RCV000505959;
Chromosome 12:121175678..121175678
Allele frequencies from ESP 0.0343
Allele frequencies from ExAC 0.03132
Allele frequencies from TGP 0.0156
ClinVar Allele ID 18869
Disease database name and identifier MedGen:C0342783, OMIM:201470, Orphanet:ORPHA26792, SNOMED CT:124166007|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Deficiency of butyryl-CoA dehydrogenase|not specified|not provided
HGVS variant names NC 000012.11:g.121175678C>T
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(2), Likely benign(1), Likely pathogenic(1), Pathogenic(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ARUP Laboratories, Molecular Genetics and Genomics:21540|Illumina Clinical Services Laboratory, Illumina:11539|OMIM Allelic Variant:606885.0006|UniProtKB (protein):P16219#VAR 013567
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 1800556
Variant Flags
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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
rs180055612121175678121175678C/TT0.0252OMIM phenotype variantsSCAD DEFICIENCY
rs180055612121175678121175678C/TT0.0252OMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM98000812121175678121175678HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available