View genomic variant #0000000496

Chromosome 12
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121176083G>A
Published as -
GERP 4.640
Segregation -
DB-ID ACADS_000002
dbSNP ID rs1799958
Frequency -
Sources ; clinvar;
Reference 19800078;11134486;23757202
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.19683 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 -/- - 6/10 c.625G>A p.(Gly209Ser) benign(0.342) missense_variant,splice_region_variant - deleterious(0.02)
ACADS XM_005253878.1 -/- - 6/10 c.613G>A p.(Gly205Ser) possibly_damaging(0.757) missense_variant,splice_region_variant - deleterious(0.01)


ClinVar @ MSeqDR

0.1968
0.25918
0.1823
18870
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.121176083G>A
criteria provided, conflicting interpretations
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM980010,Illumina Clinical Services Laboratory,Illumina:11546,OMIM Allelic Variant:606885.0007,UniProtKB (protein):P16219#VAR 000315
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 1799958
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
rs179995812121176083121176083G/AA0.1767OMIM phenotype variantsSCAD DEFICIENCY
rs179995812121176083121176083G/AA0.1767OMIM phenotype variantsDeficiency of butyryl-CoA dehydrogenase
CM98001012121176083121176083HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available