Genomic variant #0000000051

Chromosome 1
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.76215129C>T
Published as -
GERP 5.860
Segregation -
DB-ID ACADM_000006
dbSNP ID rs121434281
Frequency -
Sources ; clinvar;
Reference 11409868;23757202
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 +/+ - 9/12 c.734C>T p.(Ser245Leu) probably_damaging(0.995) missense_variant - deleterious(0)
ACADM NM_001127328.1 +/+ - 9/12 c.746C>T p.(Ser249Leu) probably_damaging(0.998) missense_variant - deleterious(0)


ClinVar @ MSeqDR

0.00003
18637
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.76215129C>T
criteria provided, multiple submitters, no conflicts
Clinical Significance
single nucleotide variant
SO:0001483
HGMD:CM011749|OMIM Allelic Variant:607008.0012|UniProtKB (protein):P11310#VAR 013699
Gene symbol:Gene id. ACADM:34
SO:0001583|missense variant
1
dbSNP ID 121434281
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
rs12143428117621512976215129C/TOMIM phenotype variantsMCAD DEFICIENCY
rs12143428117621512976215129C/TOMIM phenotype variantsMedium-chain acyl-coenzyme A dehydrogenase deficiency
CM01174917621512976215129HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available