View genomic variant #0000000493

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121175678C>T
Published as -
GERP 2.100
Segregation -
DB-ID ACADS_000010
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS NM_000017.2 +/+ - 5/10 c.511C>T p.(Arg171Trp) benign(0.006) missense_variant - deleterious(0.02)
ACADS XM_005253878.1 +/+ - - c.473-174C>T p.(=) - - - -


ClinVar @ MSeqDR

0.0343
0.03132
0.0156
18869
MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007|MedGen:CN169374|MedGen:CN517202
Deficiency of butyryl-CoA dehydrogenase|not specified|not provided
HGVS variant names NC 000012.11:g.121175678C>T
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
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
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 1800556
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
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