Genomic variant #0000000491

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121174897C>T
Published as -
GERP 3.880
Segregation -
DB-ID ACADS_000008
dbSNP ID rs61732144
Frequency -
Sources ; clinvar;
Reference 18054510;2808706
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00085 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 +/+ - 3/10 c.319C>T p.(Arg107Cys) probably_damaging(1) missense_variant - deleterious(0)
ACADS XM_005253878.1 +/+ - 3/10 c.319C>T p.(Arg107Cys) probably_damaging(1) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.0009
0.00106
18865
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.121174897C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
Illumina Clinical Services Laboratory,Illumina:115689|OMIM Allelic Variant:606885.0002|UniProtKB (protein):P16219#VAR 000312
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 61732144
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

408538
MedGen:CN517202
not provided
HGVS variant names NC 000012.11:g.121174897 121174899delCGTinsTGC
criteria provided, single submitter
Clinical Significance
Indel
SO:1000032
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 1064795254
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
rs6173214412121174897121174897C/TOMIM phenotype variantsSCAD DEFICIENCY
rs6173214412121174897121174897C/TOMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM90000212121174897121174897HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available