View genomic variant #0000025654
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.26417955_26417959del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
HADHA_000098 |
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 | RCV001504644; | Chromosome | 2:26417954..26417954 | ClinVar Allele ID | 1133541 | 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.26417954C>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. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 2147753540 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000674517; RCV002531352; RCV003144476; | Chromosome | 2:26417955..26417959 | ClinVar Allele ID | 542086 | Disease database name and identifier | MedGen:CN517202|MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746|MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5 | ClinVar preferred disease name | not provided|Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000002.11:g.26417955CCTTA[1] | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Pathogenic/Likely pathogenic | Variant type | Microsatellite | Sequence Ontology for variant type | SO:0000289 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001575|splice donor variant | Allele origin | germline | dbSNP ID | 764557236 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001999742; | Chromosome | 2:26417960..26417960 | ClinVar Allele ID | 1364028 | 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.26417961del | ClinVar review status | criteria provided, single submitter | Clinical Significance | Pathogenic | Variant type | Deletion | Sequence Ontology for variant type | SO:0000159 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001575|splice donor variant | Allele origin | germline | dbSNP ID | 2147753555 | 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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