Variant #0000081449 (NC_000016.9:g.23640966C>A, NM_024675.3:c.2509G>T (PALB2))
| Individual ID |
00052061 |
| Chromosome |
16 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.23640966C>A |
| DNA change (hg38) |
g.23629645C>A |
| Published as |
- |
| ISCN |
- |
| DB-ID |
PALB2_010316 |
| Variant remarks |
- |
| Reference |
PubMed: Zhen 2015 |
| ClinVar ID |
- |
| dbSNP ID |
rs587778587 |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
Hpy99I-, TaqI- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Marc Tischkowitz |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2015-10-15 16:11:17 +02:00 (CEST) |
| Date last edited |
2019-05-13 08:38:57 +02:00 (CEST) |

Variant on transcripts
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