Variant #0001071351 (NC_000023.10:g.pter_(24900001_37600000)delins[NC_000001.10:g.(156500001_165500000)_qterinv], NM_004006.2:c.(-244_*2691)delins[NC_000001.10:g.(156500001_165500000)_qterinv] (DMD))
| Individual ID |
00474821 |
| Chromosome |
X |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.pter_(24900001_37600000)delins[NC_000001.10:g.(156500001_165500000)_qterinv] |
| DNA change (hg38) |
g.pter_(24900001_37800000)delins[NC_000001.11:g.(156600001_165500000)_qterinv] |
| Published as |
t(X;1)(p21;q23) |
| ISCN |
- |
| DB-ID |
DMD_070352 |
| Variant remarks |
- |
| Reference |
PubMed: Megarbane 2022 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-03-26 10:24:36 +01:00 (CET) |
| Date last edited |
N/A |
Variant on transcripts
Screenings
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