Variant #0000096831 (NC_000022.10:g.25627576T>G, NM_000496.2:c.455T>G (CRYBB2))
| Individual ID |
00065033 |
| Chromosome |
22 |
| Allele |
Parent #1 |
| Affects function (as reported) |
Probably affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25627576T>G |
| DNA change (hg38) |
g.25231609T>G |
| Published as |
- |
| ISCN |
- |
| DB-ID |
CRYBB2_000026 |
| Variant remarks |
- |
| Reference |
PubMed: Gillespie 2014, Journal: Gillespie 2014 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2016-05-15 22:17:13 +02:00 (CEST) |
| Date last edited |
2016-05-15 22:48:06 +02:00 (CEST) |

Variant on transcripts
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