View genomic variant #0000017990
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.7123240T>C |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
DLG4_000002 |
MSCV |
MSCV_0017990 |
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 | RCV000299039; | Chromosome | 17:7123240..7123240 | Allele frequencies from ExAC | 0.01154 | ClinVar Allele ID | 339994 | Disease database name and identifier | MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793 | ClinVar preferred disease name | Very long chain acyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000017.10:g.7123240T>C | ClinVar review status | reviewed by expert panel | Clinical Significance | Benign | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA8337481 | Gene symbol:Gene id. | DLG4:1742|ACADVL:37 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 77051465 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000152731; RCV000335414; RCV001610461; | Chromosome | 17:7123240..7123241 | Allele frequencies from ESP | 0.45172 | Allele frequencies from TGP | 0.46785 | ClinVar Allele ID | 177462 | Disease database name and identifier | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793 | ClinVar preferred disease name | not specified|not provided|Very long chain acyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000017.10:g.7123241 7123255dup | 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:CA179707 | Gene symbol:Gene id. | DLG4:1742|ACADVL:37 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant | Allele origin | germline | dbSNP ID | 6145976 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000671629; | Chromosome | 17:7123240..7123241 | ClinVar Allele ID | 549012 | Disease database name and identifier | MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793 | ClinVar preferred disease name | Very long chain acyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000017.10:g.7123255 7123256insGGGCACGCGGGCGTGCAGGACGC | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | DLG4:1742|ACADVL:37 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant | Allele origin | unknown | dbSNP ID | 6145976 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000674467; | Chromosome | 17:7123240..7123241 | ClinVar Allele ID | 548608 | Disease database name and identifier | MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793 | ClinVar preferred disease name | Very long chain acyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000017.10:g.7123254 7123255insTGGGCGTGCAGGACGCGGGCGTGCAGGACG | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | DLG4:1742|ACADVL:37 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant | Allele origin | unknown | dbSNP ID | 1555527393 | Variant Flags | : |
ClinVar @ MSeqDR as full content XML tree
ClinVar @ MSeqDR | RCVaccession | RCV000670373; | Chromosome | 17:7123240..7123241 | ClinVar Allele ID | 548229 | Disease database name and identifier | MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793 | ClinVar preferred disease name | Very long chain acyl-CoA dehydrogenase deficiency | HGVS variant names | NC 000017.10:g.7123252 7123253insTGCGGGCGTGCAGGA | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | Insertion | Sequence Ontology for variant type | SO:0000667 | Gene symbol:Gene id. | DLG4:1742|ACADVL:37 | Molecular consequence | SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant | Allele origin | unknown | dbSNP ID | 1555527401 | 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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