Variant #0000230239 (NC_000023.10:g.(31893385_31947815)_(33357493_?)del, DMD(NM_004006.2):c.-244_(6810_7018){0})
Individual ID |
00139197 |
Chromosome |
X |
Allele |
Parent #1 |
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.(31893385_31947815)_(33357493_?)del |
DNA change (hg38) |
g.(31875268_31929698)_(33339376_?)del |
Published as |
c.-244_(6912+1_6913-1)del |
ISCN |
- |
DB-ID |
DMD_010047 See all 2 reported entries |
Variant remarks |
deletion incl. Dp427c |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Ieke Ginjaar |
Database submission license |
No license selected |
Created by |
Ieke Ginjaar |

Variant on transcripts
Screenings
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