nsv6315093
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs) AND Hereditary spastic paraplegia 51
- Publication(s):Ashwal et al. 2004, Ebrahimi-Fakhari et al. 2018, Najmabadi et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 97 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6315093 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 50,949,868 | 50,949,868 |
| nsv6315093 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 51,242,065 | 51,242,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976541 | insertion | Multiple | Multiple | AP-4-Associated Hereditary Spastic Paraplegia; SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51; Severe intellectual disability and progressive spastic paraplegia; Spastic paraplegia 51, autosomal recessive | Pathogenic | ClinVar | RCV000023638.4, VCV000030661.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976541 | Submitted genomic | NC_000015.10:g.509 49868_50949869insN N | GRCh38 (hg38) | NC_000015.10 | Chr15 | 50,949,868 | 50,949,868 |
| nssv17976541 | Submitted genomic | NC_000015.9:g.5124 2065_51242066insNN | GRCh37 (hg19) | NC_000015.9 | Chr15 | 51,242,065 | 51,242,065 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976541 | GRCh37: NC_000015.9:g.51242065_51242066insNN, GRCh38: NC_000015.10:g.50949868_50949869insNN | insertion | germline | AP-4-Associated Hereditary Spastic Paraplegia; SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51; Severe intellectual disability and progressive spastic paraplegia; Spastic paraplegia 51, autosomal recessive | Pathogenic | ClinVar | RCV000023638.4, VCV000030661.1 |