View genomic variant #0000025648
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.26415259_26415260insTGA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
HADHA_000092 |
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 | RCV000671365; | Chromosome | 2:26415259..26415260 | ClinVar Allele ID | 541965 | Disease database name and identifier | MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5 | ClinVar preferred disease name | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000002.11:g.26415261 26415263dup | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001821|inframe insertion | Allele origin | unknown | dbSNP ID | 796051971 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000185935; RCV002252030; RCV002513955; | Chromosome | 2:26415259..26415260 | ClinVar Allele ID | 199995 | Disease database name and identifier | MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746|MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5|MedGen:CN517202|. | ClinVar preferred disease name | Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|not provided|See cases | HGVS variant names | NC 000002.11:g.26415260 26415263dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA312583 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 796051971 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000409331; RCV001234387; | Chromosome | 2:26415261..26415264 | ClinVar Allele ID | 357251 | 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.26415264 26415267del | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Variant clinical sources reported | ClinGen:CA16040871 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 1057517397 | 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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