Variant #0000184363 (NC_000023.10:g.?, IDS(NM_000202.5):c.(?_-199)_(*3979_?)del)
Individual ID |
00114393 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.? |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
IDS_000156 See all 15 reported entries |
Variant remarks |
complete gene deletion incl. DXS466; DXS296 and DXS304 present |
Reference |
PubMed: Bunge |
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 |
2009-11-28 19:57:45 +01:00 (CET) |
Date last edited |
2012-07-20 18:13:24 +02:00 (CEST) |
Variant on transcripts
Screenings
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