Variant #0000195308 (NC_000011.9:g.44129462dup, NM_207122.1:c.200dup (EXT2))
Individual ID |
00118740 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.44129462dup |
DNA change (hg38) |
g.44107912dup |
Published as |
201_202insC |
ISCN |
- |
DB-ID |
EXT2_000042 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ivy Jennes |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Wim Wuyts |
Date created |
2009-02-10 12:20:02 +01:00 (CET) |
Date last edited |
2022-10-07 13:17:02 +02:00 (CEST) |

Variant on transcripts
Screenings
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