Variant #0001017840 (NC_000005.9:g.161524745del, NM_198904.2:c.429del (GABRG2))
Individual ID |
00458108 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.161524745del |
DNA change (hg38) |
g.162097739del |
Published as |
- |
ISCN |
- |
DB-ID |
GABRG2_000086 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
ClinVar-3383966 |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marketa Wayhelova |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Marketa Wayhelova |
Date created |
2024-12-02 11:54:46 +01:00 (CET) |
Date last edited |
2024-12-27 10:56:45 +01:00 (CET) |

Variant on transcripts
Screenings
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