View genomic variant #0000000487

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121174846G>A
Published as -
GERP 4.860
Segregation -
DB-ID ACADS_000016
dbSNP ID rs121908005
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS NM_000017.2 +/+ - 3/10 c.268G>A p.(Gly90Ser) probably_damaging(1) missense_variant - deleterious(0)
ACADS XM_005253878.1 +/+ - 3/10 c.268G>A p.(Gly90Ser) probably_damaging(1) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.00004
18871
MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007
Deficiency of butyryl-CoA dehydrogenase
HGVS variant names NC 000012.11:g.121174846G>A
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:606885.0008,UniProtKB (protein):P16219#VAR 013565
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 121908005
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
rs12190800512121174846121174846G/AOMIM phenotype variantsSCAD DEFICIENCY
rs12190800512121174846121174846G/AOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM01000512121174846121174846HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available