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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