nsv7093433
- 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:800
- Description:NM_000277.3(PAH):c.553_706+646delinsTACTTACCTA
T AND Phenylketonuria - Publication(s):Camp et al. 2014, Regier et al. 2000, Vockley et al. 2013, Zschocke 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: 67 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093433 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 102,854,490 | 102,855,289 |
| nsv7093433 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 103,248,268 | 103,249,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786069 | delins | Multiple | Multiple | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Pathogenic | ClinVar | RCV002857118.1, VCV002017917.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786069 | Submitted genomic | NC_000012.12:g.102 854490_102855289de linsATAGGTAAGTA | GRCh38 (hg38) | NC_000012.12 | Chr12 | 102,854,490 | 102,855,289 |
| nssv18786069 | Submitted genomic | NC_000012.11:g.103 248268_103249067de linsATAGGTAAGTA | GRCh37 (hg19) | NC_000012.11 | Chr12 | 103,248,268 | 103,249,067 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786069 | GRCh37: NC_000012.11:g.103248268_103249067delinsATAGGTAAGTA, GRCh38: NC_000012.12:g.102854490_102855289delinsATAGGTAAGTA | delins | germline | PHENYLKETONURIA; PKU; Phenylalanine Hydroxylase Deficiency; Phenylketonuria; Phenylketonuria | Pathogenic | ClinVar | RCV002857118.1, VCV002017917.1 |