View genomic variant #0000000954
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Type |
subst |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.128622922G>C |
Published as |
- |
GERP |
5.540 |
Segregation |
- |
DB-ID |
ACAD9_000002 See all 2 reported entries |
MSCV |
MSCV_0000954 |
dbSNP ID |
rs115532916 |
Frequency |
- |
Sources |
; |
Reference |
21057504 |
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 | RCV000123467; RCV000395019; RCV000676686; | Chromosome | 3:128622922..128622922 | Allele frequencies from ESP | 0.01522 | Allele frequencies from TGP | 0.00779 | ClinVar Allele ID | 139956 | Disease database name and identifier | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012624, MedGen:C4747517, OMIM:611126, Orphanet:99901 | ClinVar preferred disease name | not specified|not provided|Acyl-CoA dehydrogenase 9 deficiency | HGVS variant names | NC 000003.11:g.128622922G>A | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Uncertain significance(1)|Benign(5)|Likely benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA289241|UniProtKB:Q9H845#VAR 071899 | Gene symbol:Gene id. | ACAD9:28976 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 115532916 | For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN | MONDO:MONDO:0012624, MedGen:C4747517, OMIM:611126, Orphanet:99901 | For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB | Acyl-CoA dehydrogenase 9 deficiency | Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance. | 424747:Pathogenic | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000023868; RCV000198883; RCV001582497; | Chromosome | 3:128622922..128622922 | ClinVar Allele ID | 39840 | Disease database name and identifier | MONDO:MONDO:0100133, MedGen:C1838979, Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0012624, MedGen:C4747517, OMIM:611126, Orphanet:99901 | ClinVar preferred disease name | Mitochondrial complex I deficiency|not provided|Acyl-CoA dehydrogenase 9 deficiency | HGVS variant names | NC 000003.11:g.128622922G>C | ClinVar review status | criteria provided, conflicting interpretations | Clinical Significance | Conflicting interpretations of pathogenicity | Conflicting clinical significance | Pathogenic(3)|Likely pathogenic(2)|Benign(1) | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA129519|OMIM:611103.0005 | Gene symbol:Gene id. | ACAD9:28976 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | germline | dbSNP ID | 115532916 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001335615; | Chromosome | 3:128622922..128622922 | ClinVar Allele ID | 1019745 | Disease database name and identifier | MONDO:MONDO:0012624, MedGen:C4747517, OMIM:611126, Orphanet:99901 | ClinVar preferred disease name | Acyl-CoA dehydrogenase 9 deficiency | HGVS variant names | NC 000003.11:g.128622922G>T | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Gene symbol:Gene id. | ACAD9:28976 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | maternal | dbSNP ID | 115532916 | 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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