View genomic variant #0000025673
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.26462007del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
HADHA_000111 |
MSCV |
- |
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 |
Lishuang Shen |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV002962926; | Chromosome | 2:26462006..26462006 | ClinVar Allele ID | 2137735 | Disease database name and identifier | MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746|MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5 | ClinVar preferred disease name | Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000002.11:g.26462006T>C | 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. | HADHA:3030 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000667698; RCV001855485; RCV003222091; | Chromosome | 2:26462007..26462007 | ClinVar Allele ID | 542070 | Disease database name and identifier | MedGen:C3661900|MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5|MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746 | ClinVar preferred disease name | not provided|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency | HGVS variant names | NC 000002.11:g.26462007del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | HADHA:3030 | Molecular consequence | SO:0001587|nonsense | Allele origin | germline | dbSNP ID | 1553316176 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV002636135; | Chromosome | 2:26462007..26462007 | ClinVar Allele ID | 1989606 | Disease database name and identifier | MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5|MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746 | ClinVar preferred disease name | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency | HGVS variant names | NC 000002.11:g.26462007A>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. | HADHA:3030 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | 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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