Variant #0000060896 (NC_000022.10:g.27012232C>T, CRYBB1(NM_001887.3):c.52G>A)

Individual ID 00013704
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.27012232C>T
DNA change (hg38) g.26616268C>T
Published as -
ISCN -
DB-ID CRYBB1_000007
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs5761634
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBB1 NM_001887.3 ?/. 2 c.52G>A r.(?) p.(Gly18Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013620 DNA SEQ leukocytes screen APC gene (index patient) APC 2 Stefan Aretz