Variant #0000377898 (NC_000023.10:g.(?_85116185)_(85302566_?)del, NM_000390.2:c.-30_*3450{0} (CHM))
Individual ID |
00166886 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_85116185)_(85302566_?)del |
DNA change (hg38) |
g.(?_85861180)_(86047562_?)del |
Published as |
1-?_5442+?del |
ISCN |
- |
DB-ID |
CHM_000099 See all 22 reported entries |
Variant remarks |
hemizygous; total gene deletion |
Reference |
PubMed: Esposito 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne-Françoise Roux |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anne-Françoise Roux |
Date created |
2011-10-10 16:25:33 +02:00 (CEST) |
Date last edited |
2021-01-26 15:20:21 +01:00 (CET) |

Variant on transcripts
Screenings
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