View genomic variant #0000005167

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.76226846A>G
Published as -
GERP 5.210
Segregation -
DB-ID ACADM_000009 See all 3 reported entries
MSCV MSCV_0005167
dbSNP ID rs77931234
Frequency -
Sources ; ensembl;
Reference 11486912;1447668;23574375;8682492;8770876;11346377;1361190;1570195;18241067;1902818;{PMID:23757202:23
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) 0.00538 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 0000005167 ./. - 11/12 c.985A>G p.(Lys329Glu) benign(0.073) missense_variant - tolerated(0.31)
ACADM 00000383 NM_001127328.1 0000005167 ./. - 11/12 c.997A>G p.(Lys333Glu) benign(0.164) missense_variant - tolerated(0.31)
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ClinVar @ MSeqDR

RCVaccession RCV000211523;
Chromosome 1:76226846..76226846
ClinVar Allele ID 227903
Disease database name and identifier MedGen:C0220710, OMIM:201450, Orphanet:ORPHA42, SNOMED CT:128596003
ClinVar preferred disease name Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76226846A>C
ClinVar review status criteria provided, single submitter
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. ACADM:34
Molecular consequence SO:0001583|missense variant
Allele origin germline
dbSNP ID 77931234
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000003769; RCV000077895;
Chromosome 1:76226846..76226846
Allele frequencies from ESP 0.0054
Allele frequencies from ExAC 0.00332
Allele frequencies from TGP 0.0010
ClinVar Allele ID 18625
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.76226846A>G
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 HGMD:CM900001|Illumina Clinical Services Laboratory, Illumina:203899|OMIM Allelic Variant:607008.0001
Gene symbol:Gene id. ACADM:34
Molecular consequence SO:0001583|missense variant
Allele origin
dbSNP ID 77931234
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
rs7793123417622684676226846A/GG0.0023OMIM phenotype variantsMCAD DEFICIENCY
rs7793123417622684676226846A/GG0.0023OMIM phenotype variantsAcyl-CoA dehydrogenase medium-chain deficiency
rs7793123417622684676226846A/GG0.0023OMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM90000117622684676226846HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available