Variant #0000060887 (NC_000022.10:g.27012115del, CRYBB1(NM_001887.3):c.171del)
Individual ID |
00033899 |
Chromosome |
22 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.27012115del |
DNA change (hg38) |
g.26616151del |
Published as |
delG168 |
ISCN |
- |
DB-ID |
CRYBB1_000001 See all 16 reported entries |
Variant remarks |
homozygosity mapping; not in 200 control chromosomes |
Reference |
PubMed: Cohen 2007 |
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 |
2010-11-30 21:46:13 +01:00 (CET) |
Date last edited |
2020-07-17 11:55:35 +02:00 (CEST) |

Variant on transcripts
Screenings
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