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
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