View genomic variant #0000000053

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76215237G>C
Published as -
GERP 5.730
Segregation -
DB-ID ACADM_000008
dbSNP ID rs121434282
Frequency -
Sources ; clinvar;
Reference 11486912
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     
ACADM NM_000016.4 +/+ - 9/12 c.842G>C p.(Arg281Thr) probably_damaging(0.999) missense_variant - deleterious(0)
ACADM NM_001127328.1 +/+ - 9/12 c.854G>C p.(Arg285Thr) probably_damaging(0.998) missense_variant - deleterious(0)


ClinVar @ MSeqDR

18635
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003
Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76215237G>C
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607008.0013,UniProtKB (protein):P11310#VAR 013700
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
1
dbSNP ID 121434282
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
rs12143428217621523776215237G/COMIM phenotype variantsMCAD DEFICIENCY
rs12143428217621523776215237G/COMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency