nsv3876480
- 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:4,653
- Description:NC_000009.12:g.(?_34646586)_(34651238_?)del AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Publication(s):Berry et al. 2000, Centers for Disease Control and Prevention (CDC) et al. 2012, Fridovich-Keil et al. 2014, No authors et al. 2001
- ClinVar: RCV000634560.1
- ClinVar: VCV000529227.1
- GeneReviews: NBK1518
- MONDO: 0009258
- MedGen: C0268151
- OMIM: 230400
- OMIM: 606999.0001
- OMIM: 606999.0002
- OMIM: 606999.0003
- OMIM: 606999.0006
- OMIM: 606999.0007
- OMIM: 606999.0008
- OMIM: 606999.0009
- OMIM: 606999.0010
- OMIM: 606999.0011
- OMIM: 606999.0013
- OMIM: 606999.0014
- OMIM: 606999.0015
- OMIM: 606999.0016
- Orphanet: 352
- Orphanet: 79239
- PubMed: 20301691
- PubMed: 21938795
- PubMed: 22475884
- PubMed: 25473725
- 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: 123 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3876480 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 34,646,586 | 34,651,238 |
| nsv3876480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 34,646,583 | 34,651,235 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131629 | deletion | Multiple | Multiple | Classic Galactosemia and Clinical Variant Galactosemia; Classic galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; GALACTOSEMIA; Galactosemia; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000634560.1, VCV000529227.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131629 | Submitted genomic | NC_000009.12:g.(?_ 34646586)_(3465123 8_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 34,646,586 | 34,651,238 |
| nssv15131629 | Submitted genomic | NC_000009.11:g.(?_ 34646583)_(3465123 5_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 34,646,583 | 34,651,235 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131629 | GRCh37: NC_000009.11:g.(?_34646583)_(34651235_?)del, GRCh38: NC_000009.12:g.(?_34646586)_(34651238_?)del | deletion | germline | Classic Galactosemia and Clinical Variant Galactosemia; Classic galactosemia; Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase; GALACTOSEMIA; Galactosemia; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000634560.1, VCV000529227.1 |