View genomic variant #0000000485

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121164918C>T
Published as -
GERP 3.560
Segregation -
DB-ID ACADS_000017
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS NM_000017.2 +/+ - 2/10 c.136C>T p.(Arg46Trp) probably_damaging(0.982) missense_variant - deleterious(0)
ACADS XM_005253878.1 +/+ - 2/10 c.136C>T p.(Arg46Trp) probably_damaging(0.982) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.00012
0.0002
18864
MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007|MedGen:CN517202
Deficiency of butyryl-CoA dehydrogenase|not provided
HGVS variant names NC 000012.11:g.121164918C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:606885.0001,UniProtKB (protein):P16219#VAR 000310
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
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