View genomic variant #0000015352
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.76190467_76190478delinsACCCCGAAGG |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
ACADM_000128 |
MSCV |
MSCV_0015352 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
Variant not found in online data sets |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV001241741; | Chromosome | 1:76190467..76190478 | ClinVar Allele ID | 952522 | 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.76190467 76190478delinsACCCCGAGTG | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Indel | Sequence Ontology for variant type | SO:1000032 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001582|initiator codon variant, SO:0001589|frameshift variant, SO:0001623|5 prime UTR variant | Allele origin | germline | dbSNP ID | 875989865 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001457339; | Chromosome | 1:76190478..76190478 | Allele frequencies from ExAC | 0.00004 | ClinVar Allele ID | 1110846 | 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.76190478A>C | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 752190688 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002213469; | Chromosome | 1:76190478..76190478 | ClinVar Allele ID | 1623482 | 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.76190478A>G | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 752190688 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001483626; | Chromosome | 1:76190478..76190478 | ClinVar Allele ID | 1131707 | 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.76190478A>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | ACADM:34 | Molecular consequence | SO:0001623|5 prime UTR variant, SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 752190688 | 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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