Variant #0000921668 (NC_000022.10:g.25601196C>G, NM_004076.3:c.337C>G (CRYBB3))

Individual ID 00434130
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.25601196C>G
DNA change (hg38) g.25205229C>G
Published as -
ISCN -
DB-ID CRYBB3_000003 See all 7 reported entries
Variant remarks -
Reference PubMed: Li 2019
ClinVar ID -
dbSNP ID rs9608378
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.66196 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-03-20 14:55:46 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBB3 NM_004076.3 -?/. - c.337C>G r.(?) p.(His113Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000435597 DNA SEQ;SEQ-NG - gene panel - 26 Johan den Dunnen


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