View genomic variant #0000005185

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121176971C>T
Published as -
GERP 4.730
Segregation -
DB-ID ACADS_000005 See all 2 reported entries
dbSNP ID rs28941773
Frequency -
Sources ; ensembl;
Reference 11134486
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00016 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 ./. - 9/10 c.1058C>T p.(Ser353Leu) probably_damaging(1) missense_variant - deleterious(0)
ACADS XM_005253878.1 ./. - 9/10 c.1046C>T p.(Ser349Leu) probably_damaging(0.999) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.0002
0.00012
18875
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.121176971C>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:606885.0012,UniProtKB (protein):P16219#VAR 013570
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 28941773
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
rs2894177312121176971121176971C/TOMIM phenotype variantsSCAD DEFICIENCY
rs2894177312121176971121176971C/TOMIM phenotype variantsAcyl-CoA dehydrogenase short-chain deficiency
rs2894177312121176971121176971C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM01000812121176971121176971HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available