nsv5673900
- 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:8,135
- Description:
NM_001110792.2(MECP2):c.63-6214_1227del AND Rett syndrome - Publication(s):Christodoulou et al. 2001, Schaefer et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673900 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,030,637 | 154,038,771 |
| nsv5673900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 153,296,088 | 153,304,222 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15124008 | deletion | Multiple | Multiple | Atypical Rett syndrome; MECP2-Related Disorders; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome | Pathogenic | ClinVar | RCV000170186.1, VCV000189699.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15124008 | Submitted genomic | NC_000023.11:g.154 030637_154038771de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,030,637 | 154,038,771 |
| nssv15124008 | Submitted genomic | NC_000023.10:g.153 296088_153304222de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 153,296,088 | 153,304,222 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15124008 | GRCh37: NC_000023.10:g.153296088_153304222del, GRCh38: NC_000023.11:g.154030637_154038771del | deletion | unknown | Atypical Rett syndrome; MECP2-Related Disorders; RETT SYNDROME; RTT; Rett syndrome; Rett syndrome | Pathogenic | ClinVar | RCV000170186.1, VCV000189699.2 |