Variant #0000825070 (NC_000008.10:g.87679181_87679188del, NM_019098.4:c.819_826del (CNGB3))
Individual ID |
00392912 |
Chromosome |
8 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.87679181_87679188del |
DNA change (hg38) |
g.86666953_86666960del |
Published as |
NM_019098.5(CNGB3):c.819_826del (het)CNGB3 EX7 DUP |
ISCN |
- |
DB-ID |
CNGB3_000044 See all 54 reported entries |
Variant remarks |
heterozygous |
Reference |
PubMed: Bergant 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
2021-11-25 10:23:18 +01:00 (CET) |
Date last edited |
2025-03-11 07:30:55 +01:00 (CET) |

Variant on transcripts
Screenings
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