Genomic variant #0000000054

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) 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 2 reported entries
dbSNP ID rs77931234
Frequency -
Sources ; clinvar;
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


Gene     

AscendingTranscript     

Affects function     

Location     

Exon     

DNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
ACADM NM_000016.4 +/+ - 11/12 c.985A>G p.(Lys329Glu) benign(0.073) missense_variant - tolerated(0.31)
ACADM NM_001127328.1 ./. - - c.997A>G p.(Lys333Glu) - - - -


ClinVar @ MSeqDR

227903
MedGen:C0220710,OMIM:201450,Orphanet:ORPHA42,SNOMED CT:128596003
Medium-chain acyl-coenzyme A dehydrogenase deficiency
HGVS variant names NC 000001.10:g.76226846A>C
criteria provided, single submitter
Clinical Significance
single nucleotide variant
SO:0001483
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
1
dbSNP ID 77931234
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

0.0054
0.00332
0.0010
18625
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.76226846A>G
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM900001|Illumina Clinical Services Laboratory,Illumina:203899|OMIM Allelic Variant:607008.0001
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
9
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