nsv6636116
- 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:4,520
- Description:NM_000169.3(GLA):c.370-530_1279del AND Angiokeratoma corporis diffusum
- Publication(s):ACMG Board of Directors et al. 2014, Authors/Task Force members et al. 2014, Bennett et al. 2002, Eng et al. 2006, Gal et al. 2012, Green et al. 2013, Heart Failure Society of America et al. 2010, Kalia et al. 2016, Kornreich et al. 1990, Laney et al. 2013, Mehta et al. 2002, Meschia et al. 2014, Miller et al. 2021, Miller et al. 2022, Writing Committee Members et al. 2022, Yancy et al. 2017
- ClinVar: RCV000011507.6
- ClinVar: VCV000010760.1
- GeneReviews: NBK1292
- HP: 0001071
- MONDO: 0010526
- MedGen: C0002986
- OMIM: 300644.0048
- OMIM: 301500
- Orphanet: 324
- PubMed: 12735292
- PubMed: 16980809
- PubMed: 20301469
- PubMed: 20610207
- PubMed: 2160973
- PubMed: 21934708
- PubMed: 23788249
- PubMed: 23860966
- PubMed: 25173338
- PubMed: 25355838
- PubMed: 25356965
- PubMed: 27854360
- PubMed: 28461259
- PubMed: 34012068
- PubMed: 35378257
- PubMed: 35802134
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 93 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636116 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 101,397,820 | 101,402,339 |
| nsv6636116 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,652,808 | 100,657,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330599 | deletion | Multiple | Multiple | Angiokeratoma corporis diffusum; FABRY DISEASE; Fabry Disease; Fabry disease; Fabry disease | Pathogenic | ClinVar | RCV000011507.6, VCV000010760.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330599 | Submitted genomic | NC_000023.11:g.101 397820_101402339de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 101,397,820 | 101,402,339 |
| nssv18330599 | Submitted genomic | NC_000023.10:g.100 652808_100657327de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,652,808 | 100,657,327 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330599 | GRCh37: NC_000023.10:g.100652808_100657327del, GRCh38: NC_000023.11:g.101397820_101402339del | deletion | germline | Angiokeratoma corporis diffusum; FABRY DISEASE; Fabry Disease; Fabry disease; Fabry disease | Pathogenic | ClinVar | RCV000011507.6, VCV000010760.1 |