View genomic variant #0000018916
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.26415180_26415198del |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
HADHA_000048 |
MSCV |
MSCV_0018916 |
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 |
LOVD |
Variant on transcripts
ClinVar @ MSeqDR | RCVaccession | RCV002010295; | Chromosome | 2:26415179..26415179 | ClinVar Allele ID | 1488577 | 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.26415179A>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|GAREM2:150946 | Molecular consequence | SO:0001583|missense variant | Allele origin | germline | dbSNP ID | 1669530550 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000169495; RCV001193146; RCV002498845; | Chromosome | 2:26415180..26415198 | ClinVar Allele ID | 186664 | 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.26415189 26415207del | 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:CA199115 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001589|frameshift variant | Allele origin | germline | dbSNP ID | 749848370 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000078335; RCV000294603; RCV000386562; RCV000588853; RCV001082488; | Chromosome | 2:26415198..26415198 | Allele frequencies from ESP | 0.00507 | Allele frequencies from ExAC | 0.00426 | Allele frequencies from TGP | 0.00240 | ClinVar Allele ID | 98503 | Disease database name and identifier | MONDO:MONDO:0012172, MedGen:C1969443, OMIM:609015, Orphanet:746|MONDO:MONDO:0012173, MedGen:C3711645, OMIM:609016, Orphanet:5|MedGen:C3661900|MedGen:CN169374 | ClinVar preferred disease name | Mitochondrial trifunctional protein deficiency|Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|not provided|not specified | HGVS variant names | NC 000002.11:g.26415198G>A | ClinVar review status | criteria provided, multiple submitters, no conflicts | Clinical Significance | Benign/Likely benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA145856 | Gene symbol:Gene id. | HADHA:3030|GAREM2:150946 | Molecular consequence | SO:0001819|synonymous variant | Allele origin | germline | dbSNP ID | 142348718 | 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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