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
Screenings
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