Variant #0000687726 (NC_000001.10:g.103435830T>C, NC_000001.10(NM_001854.3):c.2809-2A>G (COL11A1))
| Individual ID |
00311022 |
| Chromosome |
1 |
| Allele |
Unknown |
| 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.103435830T>C |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
COL11A1_000269 See all 4 reported entries |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Lucia Micale |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Lucia Micale |
| Date created |
2020-09-14 10:07:21 +02:00 (CEST) |
| Date last edited |
2020-09-14 14:48:44 +02:00 (CEST) |

Variant on transcripts
Screenings
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