Variant #0000060867 (NC_000002.11:g.219857791G>A, CRYBA2(NM_057093.1):c.108C>T)

Individual ID 00013699
Chromosome 2
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.219857791G>A
DNA change (hg38) g.218993069G>A
Published as -
ISCN -
DB-ID CRYBA2_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs61733621
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00099 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYBA2 NM_057093.1 ?/. 1 c.108C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013615 DNA SEQ leukocytes test known APC variant (relative) APC 4 Stefan Aretz