nsv7093573
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5
- Description:NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGG
GGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGT
GCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTA
GTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAG
GAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer) AND Mucopolysaccharidosis, MPS-III-A - Publication(s):Wagner et al. 2019
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 127 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 127 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 |
|---|---|---|---|---|---|---|---|
| nsv7093573 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 80,212,226 | 80,212,230 |
| nsv7093573 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 78,186,025 | 78,186,029 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786188 | delins | Multiple | Multiple | MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type 3; Mucopolysaccharidosis, MPS-III-A; Sanfilippo syndrome type A; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003042027.1, VCV002109750.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786188 | Submitted genomic | NC_000017.11:g.802 12226_80212230deli ns224 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 80,212,226 | 80,212,230 |
| nssv18786188 | Submitted genomic | NC_000017.10:g.781 86025_78186029deli ns224 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 78,186,025 | 78,186,029 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786188 | GRCh37: NC_000017.10:g.78186025_78186029delins224, GRCh38: NC_000017.11:g.80212226_80212230delins224 | delins | germline | MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A; Mucopolysaccharidosis Type III; Mucopolysaccharidosis type 3; Mucopolysaccharidosis, MPS-III-A; Sanfilippo syndrome type A; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003042027.1, VCV002109750.1 |