Variant #0001030013 (NC_000006.11:g.170893588G>A, NM_002598.3:c.82C>T (PDCD2))
| Individual ID |
00464522 |
| Chromosome |
6 |
| Allele |
Maternal (confirmed) |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
other |
| Clinical classification |
pathogenic (recessive) |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.170893588G>A |
| DNA change (hg38) |
g.170584500G>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PDCD2_000001 See all 5 reported entries |
| Variant remarks |
- |
| Reference |
Landry-Voyer et al - 2024 submitted |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Tess Holling |
| Database submission license |
Creative Commons Attribution-ShareAlike 4.0 International |
| Created by |
Tess Holling |
| Date created |
2025-03-21 09:20:08 +01:00 (CET) |
| Date last edited |
2025-03-24 14:57:20 +01:00 (CET) |

Variant on transcripts
Screenings
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