Variant #0000129092 (NC_000011.9:g.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000), NM_000076.2:c.?_?ins-276_*703 (CDKN1C))
| Individual ID |
00080084 |
| Chromosome |
11 |
| Allele |
Maternal (confirmed) |
| 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.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000) |
| DNA change (hg38) |
- |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CDKN1C_000110 See all 2 reported entries |
| Variant remarks |
unbalanced translocation, extra copy 11p15 |
| Reference |
for EUCID-SRS consortium |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
DUPLICATE record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
| Owner |
Zeynep Tümer |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2016-09-01 17:30:25 +02:00 (CEST) |
| Date last edited |
2020-10-01 16:54:17 +02:00 (CEST) |
Variant on transcripts
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