Variant #0000955065 (NC_000022.10:g.25627572T>C, NM_000496.2:c.451T>C (CRYBB2))

Individual ID 00445137
Chromosome 22
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.25627572T>C
DNA change (hg38) g.25231605T>C
Published as -
ISCN -
DB-ID CRYBB2_000056
Variant remarks functional analysis
Reference PubMed: Xu 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 2024-01-03 12:09:28 +01:00 (CET)
Date last edited 2024-01-03 12:09:58 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBB2 NM_000496.2 +/. - c.451T>C r.(?) p.(Trp151Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000446707 DNA SEQ - - CRYBB2 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.