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
Screenings
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