View genomic variant #0000000045

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76198409T>C
Published as -
GERP 4.450
Segregation -
DB-ID ACADM_000012 See all 2 reported entries
MSCV MSCV_0000045
dbSNP ID rs121434280
Frequency -
Sources ; clinvar;
Reference 18241067;11409868;11349232;15479234
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00085 View details
Owner LOVD




Variant on transcripts

2 entries on 1 page. Showing entries 1 - 2.
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Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADM 00000384 NM_000016.4 0000000045 +/+ - 3/12 c.199T>C p.(Tyr67His) benign(0.037) missense_variant - tolerated(0.32)
ACADM 00000383 NM_001127328.1 0000000045 +/+ - 3/12 c.211T>C p.(Tyr71His) benign(0.055) missense_variant - tolerated(0.31)
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ClinVar @ MSeqDR

RCVaccession RCV000003780; RCV000185668;
Chromosome 1:76198409..76198409
Allele frequencies from ESP 0.0009
Allele frequencies from ExAC 0.00061
ClinVar Allele ID 18636
Disease database name and identifier MedGen:C0220710, OMIM:201450, Orphanet:ORPHA42, SNOMED CT:128596003|MedGen:CN517202
ClinVar preferred disease name Medium-chain acyl-coenzyme A dehydrogenase deficiency|not provided
HGVS variant names NC 000001.10:g.76198409T>C
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely pathogenic(1), Pathogenic(8), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:607008.0011|UniProtKB (protein):P11310#VAR 013698
Gene symbol:Gene id. ACADM:34
Molecular consequence SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin germline
dbSNP ID 121434280
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
rs12143428017619840976198409T/COMIM phenotype variantsMCAD DEFICIENCY
rs12143428017619840976198409T/COMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM01174817619840976198409HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available