View genomic variant #0000015294
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Type |
- |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.43914079G>A |
Published as |
- |
GERP |
- |
Segregation |
- |
DB-ID |
SZT2_000004 |
MSCV |
MSCV_0015294 |
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 | RCV000449496; | Chromosome | 1:43914079..43914079 | ClinVar Allele ID | 384510 | Disease database name and identifier | MedGen:C0014548|Human Phenotype Ontology:HP:0000754, Human Phenotype Ontology:HP:0001255, Human Phenotype Ontology:HP:0001263, Human Phenotype Ontology:HP:0001277, Human Phenotype Ontology:HP:0001292, Human Phenotype Ontology:HP:0002433, Human Phenotype Ontology:HP:0002473, Human Phenotype Ontology:HP:0002532, Human Phenotype Ontology:HP:0006793, Human Phenotype Ontology:HP:0006867, Human Phenotype Ontology:HP:0006885, Human Phenotype Ontology:HP:0006935, Human Phenotype Ontology:HP:0007005, Human Phenotype Ontology:HP:0007094, Human Phenotype Ontology:HP:0007106, Human Phenotype Ontology:HP:0007174, Human Phenotype Ontology:HP:0007224, Human Phenotype Ontology:HP:0007228, Human Phenotype Ontology:HP:0007342, Human Phenotype Ontology:HP:0025356, MedGen:C0557874|Human Phenotype Ontology:HP:0001513, MONDO:MONDO:0011122, MeSH:D009765, MedGen:C0028754, Orphanet:71529 | ClinVar preferred disease name | Generalized epilepsy|Global developmental delay|Obesity | HGVS variant names | NC 000001.10:g.43914079G>A | ClinVar review status | criteria provided, single submitter | Clinical Significance | Uncertain significance | Variant type | single nucleotide variant | Sequence Ontology for variant type | SO:0001483 | Variant clinical sources reported | ClinGen:CA16609468 | Gene symbol:Gene id. | SZT2:23334|SZT2-AS1:100873952 | Molecular consequence | SO:0001583|missense variant, SO:0001619|non-coding transcript variant | Allele origin | paternal | dbSNP ID | 1060499723 | 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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