Variant #0000933810 (NC_000021.8:g.45752942G>A, NM_004928.2:c.347C>T (C21orf2))
| Individual ID |
00436590 |
| Chromosome |
21 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.45752942G>A |
| DNA change (hg38) |
g.44333059G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
C21orf2_000061 See all 3 reported entries |
| Variant remarks |
- |
| Reference |
Villafuerte-de la Cruz RA, et al., 2023. Submitted |
| ClinVar ID |
ClinVar-428581 |
| dbSNP ID |
rs922930539 |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
6.0E-5 View details |
| Owner |
Rocio Villafuerte-de la Cruz |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Rocio Villafuerte-de la Cruz |
| Date created |
2023-09-30 00:45:51 +02:00 (CEST) |
| Date last edited |
2023-10-01 21:31:03 +02:00 (CEST) |

Variant on transcripts
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