Variant #0000096436 (NC_000012.11:g.6952237C>T, NM_002075.2:c.200C>T (GNB3))
Individual ID |
00064673 |
Chromosome |
12 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.6952237C>T |
DNA change (hg38) |
g.6843073C>T |
Published as |
- |
ISCN |
- |
DB-ID |
GNB3_000003 |
Variant remarks |
likely homozygous; consanguineous parents deceased, no other family members available for testing |
Reference |
PubMed: Vincent 2016, Journal: Vincent 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-05-07 22:45:54 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|