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 International |
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) |

Variant on transcripts
Screenings
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