Variant #0000814445 (NC_000022.10:g.26997946dup, CRYBB1(NM_001887.3):c.473dup)

Individual ID 00385536
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.26997946dup
DNA change (hg38) g.26601982dup
Published as CRYBB1 c.473dupA p.(Asn158LysfsTer24) het
ISCN -
DB-ID CRYBB1_000018
Variant remarks heterozygous
Reference PubMed: Lenassi 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-10-12 17:40:23 +02:00 (CEST)
Date last edited 2021-10-12 17:46:42 +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 ?/. - c.473dup r.(?) p.(Asn158LysfsTer24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386765 DNA SEQ-NG blood 144 genes panel tested CRYBB1 1 LOVD