Genomic variant #0000000052

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76215194G>A
Published as -
GERP 5.730
Segregation -
DB-ID ACADM_000007
dbSNP ID rs121434274
Frequency -
Sources ; clinvar;
Reference 1684086
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 8.0E-5 View details
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.799G>A p.(Gly267Arg) probably_damaging(0.994) missense_variant - deleterious(0)
ACADM NM_001127328.1 +/+ - 9/12 c.811G>A p.(Gly271Arg) probably_damaging(0.99) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.0001
0.00022
18627
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003|MedGen:CN517202
Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided
HGVS variant names NC 000001.10:g.76215194G>A
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607008.0003|UniProtKB (protein):P11310#VAR 000323
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
1
dbSNP ID 121434274
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
rs12143427417621519476215194G/AOMIM phenotype variantsMCAD DEFICIENCY
rs12143427417621519476215194G/AOMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM91000317621519476215194HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available