nsv3883550
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,810
- Description:NM_025243.3(SLC19A3):c.-4404_-3+408del AND Biotin-responsive basal ganglia disease
- Publication(s):Tabarki et al. 2013
- ClinGen: CA645369164
- ClinVar: RCV000490817.2
- ClinVar: VCV000425554.2
- GeneReviews: NBK169615
- MONDO: 0011841
- MedGen: C1843807
- OMIM: 606152.0001
- OMIM: 606152.0002
- OMIM: 606152.0003
- OMIM: 606152.0004
- OMIM: 606152.0005
- OMIM: 606152.0006
- OMIM: 606152.0007
- OMIM: 607483
- Orphanet: 199348
- PubMed: 24260777
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 136 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3883550 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 227,717,535 | 227,722,344 |
| nsv3883550 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,582,251 | 228,587,060 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15128600 | deletion | Multiple | Multiple | Biotin-Thiamine-Responsive Basal Ganglia Disease; Biotin-thiamine-responsive basal ganglia disease; See individual phenotypes in OMIM allelic variants; THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2; Thiamine-responsive encephalopathy | Pathogenic | ClinVar | RCV000490817.2, VCV000425554.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15128600 | Submitted genomic | NC_000002.12:g.227 717535_227722344de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 227,717,535 | 227,722,344 |
| nssv15128600 | Submitted genomic | NC_000002.11:g.228 582251_228587060de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,582,251 | 228,587,060 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15128600 | GRCh37: NC_000002.11:g.228582251_228587060del, GRCh38: NC_000002.12:g.227717535_227722344del | deletion | paternal | Biotin-Thiamine-Responsive Basal Ganglia Disease; Biotin-thiamine-responsive basal ganglia disease; See individual phenotypes in OMIM allelic variants; THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2; Thiamine-responsive encephalopathy | Pathogenic | ClinVar | RCV000490817.2, VCV000425554.2 |