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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