nsv5060043
- 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:9,210
- Description:NM_000019.4(ACAT1):c.120+374_731-68delinsTAA AND Deficiency of acetyl-CoA acetyltransferase
- Publication(s):Abdelkreem 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: 138 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5060043 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 108,132,328 | 108,141,537 |
| nsv5060043 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 108,003,055 | 108,012,264 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16596262 | delins | Multiple | Multiple | ALPHA-METHYLACETOACETIC ACIDURIA; Beta-ketothiolase deficiency; Deficiency of acetyl-CoA acetyltransferase | Pathogenic | ClinVar | RCV000844845.1, VCV000666536.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16596262 | Submitted genomic | NC_000011.10:g.108 132328_108141537de linsTAA | GRCh38 (hg38) | NC_000011.10 | Chr11 | 108,132,328 | 108,141,537 |
| nssv16596262 | Submitted genomic | NC_000011.9:g.1080 03055_108012264del insTAA | GRCh37 (hg19) | NC_000011.9 | Chr11 | 108,003,055 | 108,012,264 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16596262 | GRCh37: NC_000011.9:g.108003055_108012264delinsTAA, GRCh38: NC_000011.10:g.108132328_108141537delinsTAA | delins | germline | ALPHA-METHYLACETOACETIC ACIDURIA; Beta-ketothiolase deficiency; Deficiency of acetyl-CoA acetyltransferase | Pathogenic | ClinVar | RCV000844845.1, VCV000666536.2 |