Variant #0000873285 (NC_000004.11:g.46264140T>C, NM_000807.2:c.862A>G (GABRA2))
Individual ID |
00414213 |
Chromosome |
4 |
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.46264140T>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
GABRA2_000005 |
Variant remarks |
ACMG: PM1, PM2_SUP, PP2, PP3; threonine at position 288 is located in the "transmembrane" domain of the GABRA2 protein and is highly conserved across many species. So far, only missense variants in highly conserved amino acids of this transmembrane domain have been detected in affected patients. The neighbouring amino acid exchanges p.Thr292Ile, p.Thr292Lys and p.Leu291Val have been described as pathogenic. No missense variants in this region of the protein (between amino acid positions 278 and 317) are described in the gnomAD population database |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2022-07-27 17:23:07 +02:00 (CEST) |
Date last edited |
2022-07-29 10:03:35 +02:00 (CEST) |

Variant on transcripts
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