View genomic variant #0000000048

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76205773A>G
Published as -
GERP 5.460
Segregation -
DB-ID ACADM_000003
dbSNP ID rs121434279
Frequency -
Sources ; clinvar;
Reference 9158144;9882619
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 +/+ - 7/12 c.577A>G p.(Thr193Ala) probably_damaging(0.992) missense_variant - deleterious(0)
ACADM NM_001127328.1 +/+ - 7/12 c.589A>G p.(Thr197Ala) probably_damaging(0.966) missense_variant - deleterious(0)


ClinVar @ MSeqDR

18634
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003
Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76205773A>G
no assertion criteria provided
Clinical Significance
single nucleotide variant
SO:0001483
OMIM Allelic Variant:607008.0010,UniProtKB (protein):P11310#VAR 000320
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
1
dbSNP ID 121434279
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
rs12143427917620577376205773A/GOMIM phenotype variantsMCAD DEFICIENCY
rs12143427917620577376205773A/GOMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM97002617620577376205773HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available