Variant #0000000685 (NC_000019.9:g.14029269A>C, NC_000019.9(NM_017721.4):c.874-48A>C (CC2D1A))
| Individual ID |
00000029 |
| Chromosome |
19 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14029269A>C |
| DNA change (hg38) |
g.13918456A>C |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CC2D1A_000001 |
| Variant remarks |
- |
| Reference |
PubMed: Almomani 2011 {dbSNP:2305776} |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.27536 View details |
| Owner |
Gerard C.P. Schaafsma |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Gerard C.P. Schaafsma |
| Date created |
2012-05-01 14:55:33 +02:00 (CEST) |
| Date last edited |
2018-08-25 06:37:56 +02:00 (CEST) |

Variant on transcripts
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