View genomic variant #0000000496

Chromosome 12
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) 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 See all 2 reported entries
MSCV MSCV_0000496
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

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADS 00000386 NM_000017.2 0000000496 -/- - 6/10 c.625G>A p.(Gly209Ser) benign(0.342) missense_variant,splice_region_variant - deleterious(0.02)
ACADS 00000385 XM_005253878.1 0000000496 -/- - 6/10 c.613G>A p.(Gly205Ser) possibly_damaging(0.757) missense_variant,splice_region_variant - deleterious(0.01)
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ClinVar @ MSeqDR

RCVaccession RCV000004035; RCV000185685; RCV000077896;
Chromosome 12:121176083..121176083
Allele frequencies from ESP 0.1968
Allele frequencies from ExAC 0.25918
Allele frequencies from TGP 0.1823
ClinVar Allele ID 18870
Disease database name and identifier MedGen:C0342783, OMIM:201470, Orphanet:ORPHA26792, SNOMED CT:124166007|MedGen:CN169374|MedGen:CN517202
ClinVar preferred disease name Deficiency of butyryl-CoA dehydrogenase|not specified|not provided
HGVS variant names NC 000012.11:g.121176083G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Benign(3), Likely pathogenic(2), Pathogenic(2)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported HGMD:CM980010|Illumina Clinical Services Laboratory, Illumina:11546|OMIM Allelic Variant:606885.0007|UniProtKB (protein):P16219#VAR 000315
Gene symbol:Gene id. ACADS:35
Molecular consequence SO:0001583|missense variant
Allele origin
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