View genomic variant #0000000046

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.76199288C>T
Published as -
GERP 5.690
Segregation -
DB-ID ACADM_000001 See all 2 reported entries
MSCV MSCV_0000046
dbSNP ID rs121434283
Frequency -
Sources ; clinvar;
Reference 11349232;17273963
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
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 0000000046 +/+ - 5/12 c.362C>T p.(Thr121Ile) benign(0.373) missense_variant - deleterious(0.04)
ACADM 00000383 NM_001127328.1 0000000046 +/+ - 5/12 c.374C>T p.(Thr125Ile) possibly_damaging(0.454) missense_variant - deleterious(0.03)
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ClinVar @ MSeqDR

RCVaccession RCV000003782; RCV000185674;
Chromosome 1:76199288..76199288
Allele frequencies from ExAC 0.00001
ClinVar Allele ID 18638
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.76199288C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:607008.0014|UniProtKB (protein):P11310#VAR 015956
Gene symbol:Gene id. ACADM:34
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 121434283
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
rs12143428317619928876199288C/TOMIM phenotype variantsMCAD DEFICIENCY
rs12143428317619928876199288C/TOMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM01232117619928876199288HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available