View genomic variant #0000018958
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.26455019_26455020insA |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
HADHA_000024 |
MSCV |
MSCV_0018958 |
dbSNP ID |
- |
Frequency |
- |
Sources |
; clinvar; |
Reference |
- |
Variant remarks |
- |
Genetic origin |
- |
Variant_disease |
- |
Average frequency (large NGS studies) |
0.00607 View details |
Owner |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV002131159; | Chromosome | 2:26455019..26455019 | ClinVar Allele ID | 1525373 | 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.26455019T>C | 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:0001627|intron variant | Allele origin | germline | dbSNP ID | 1419666935 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000185924; RCV000645256; RCV001276346; | Chromosome | 2:26455019..26455020 | Allele frequencies from ESP | 0.00607 | Allele frequencies from ExAC | 0.00261 | Allele frequencies from TGP | 0.00819 | ClinVar Allele ID | 200001 | Disease database name and identifier | MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5|MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746|MedGen:CN169374 | ClinVar preferred disease name | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|Mitochondrial trifunctional protein deficiency|not specified | HGVS variant names | NC 000002.11:g.26455020dup | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign | Variant type | Duplication | Sequence Ontology for variant type | SO:1000035 | Variant clinical sources reported | ClinGen:CA312572 | Gene symbol:Gene id. | HADHA:3030 | Molecular consequence | SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 112196218 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV001479833; | Chromosome | 2:26455020..26455020 | ClinVar Allele ID | 1133551 | 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.26455020A>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:0001627|intron variant | Allele origin | germline | dbSNP ID | 2147781158 | 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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