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 InternationalCreative Commons License
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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBB1 NM_001887.3 +/. 2 c.171del r.(?) p.(Asn58Thrfs*107)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033967 DNA DHPLC;SSCA;SEQ - - CRYBB1 2 Johan den Dunnen