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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