View genomic variant #0000000485

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.121164918C>T
Published as -
GERP 3.560
Segregation -
DB-ID ACADS_000017 See all 2 reported entries
MSCV MSCV_0000485
dbSNP ID rs121908003
Frequency -
Sources ; clinvar;
Reference 2808706
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000485 +/+ - 2/10 c.136C>T p.(Arg46Trp) probably_damaging(0.982) missense_variant - deleterious(0)
ACADS 00000385 XM_005253878.1 0000000485 +/+ - 2/10 c.136C>T p.(Arg46Trp) probably_damaging(0.982) missense_variant - deleterious(0)
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ClinVar @ MSeqDR

RCVaccession RCV000004029; RCV000185706;
Chromosome 12:121164918..121164918
Allele frequencies from ExAC 0.00012
Allele frequencies from TGP 0.0002
ClinVar Allele ID 18864
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.121164918C>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:606885.0001|UniProtKB (protein):P16219#VAR 000310
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 121908003
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
rs12190800312121164918121164918C/TOMIM phenotype variantsSCAD DEFICIENCY
rs12190800312121164918121164918C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM89000112121164918121164918HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available