View genomic variant #0000015393
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76199277A>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
ACADM_000082 |
MSCV |
MSCV_0015393 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.0549 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV000483298; RCV001027917; | Chromosome | 1:76199277..76199278 | ClinVar Allele ID | 405233 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0008721, MedGen:C0220710, OMIM:201450, Orphanet:42 | ClinVar preferred disease name | not provided|Medium-chain acyl-coenzyme A dehydrogenase deficiency | HGVS variant names | NC 000001.10:g.76199281dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA16617185 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001589|frameshift variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1553123071 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000003783; RCV000077887; RCV000211524; | Chromosome | 1:76199277..76199277 | Allele frequencies from ESP | 0.05490 | Allele frequencies from ExAC | 0.02793 | Allele frequencies from TGP | 0.04014 | ClinVar Allele ID | 98174 | Disease database name and identifier | MedGen:CN169374|MONDO:MONDO:0008721, MedGen:C0220710, OMIM:201450, Orphanet:42|. | ClinVar preferred disease name | not specified|Medium-chain acyl-coenzyme A dehydrogenase deficiency|MCAD deficiency, modifier of | HGVS variant names | NC 000001.10:g.76199277A>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA116375|OMIM:607008.0015 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001627|intron variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 74090726 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MedGen:CN169374 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | not specified | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 2503903:Uncertain significance | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000633660; | Chromosome | 1:76199277..76199278 | ClinVar Allele ID | 516112 | Disease database name and identifier | MONDO:MONDO:0008721, MedGen:C0220710, OMIM:201450, Orphanet:42 | ClinVar preferred disease name | Medium-chain acyl-coenzyme A dehydrogenase deficiency | HGVS variant names | NC 000001.10:g.76199277 76199278delinsCA | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Variant clinical sources reported | ClinGen:CA658795475 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001583|missense variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 1553123069 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
MSeqDR View Variant at Gbrowse Mitomap Mitochondrial Variant Phenotype Information:
None Ensembl Variant Phenotype Information:
None
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