View genomic variant #0000000498

Chromosome 12
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.121176944A>G
Published as -
GERP 4.730
Segregation -
DB-ID ACADS_000004
dbSNP ID rs387906950
Frequency -
Sources ; clinvar;
Reference 20376488
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 +/+ - 9/10 c.1031A>G p.(Glu344Gly) probably_damaging(1) missense_variant,splice_region_variant - deleterious(0.01)
ACADS XM_005253878.1 +/+ - 9/10 c.1019A>G p.(Glu340Gly) probably_damaging(0.977) missense_variant,splice_region_variant - deleterious(0.01)


ClinVar @ MSeqDR

0.00010
0.0002
39569
MedGen:C0342783,OMIM:201470,Orphanet:ORPHA26792,SNOMED CT:124166007
Deficiency of butyryl-CoA dehydrogenase
HGVS variant names NC 000012.11:g.121176944A>G
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:606885.0015
Gene symbol:Gene id. ACADS:35
SO:0001583|missense variant
1
dbSNP ID 387906950
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
CM08521212121176944121176944HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available