Genomic variant #0000000047

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76200535G>A
Published as -
GERP 5.630
Segregation -
DB-ID ACADM_000002
dbSNP ID rs121434277
Frequency -
Sources ; clinvar;
Reference 1684086
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 +/+ - 6/12 c.447G>A p.(Met149Ile) benign(0.013) missense_variant - deleterious(0.05)
ACADM NM_001127328.1 +/+ - 6/12 c.459G>A p.(Met153Ile) benign(0.013) missense_variant - deleterious(0.05)


ClinVar @ MSeqDR

18630
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003
Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76200535G>A
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607008.0006|UniProtKB (protein):P11310#VAR 000319
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 121434277
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.00001
227877
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003
Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76200535G>T
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
UniProtKB (protein):P11310#VAR 000319
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant,SO:0001627|intron variant
1
dbSNP ID 121434277
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
rs12143427717620053576200535G/AOMIM phenotype variantsMCAD DEFICIENCY
rs12143427717620053576200535G/AOMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM91000117620053576200535HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available