Variant #0000933302 (NC_000016.9:g.9862850G>A, NM_000833.3:c.2453C>T (GRIN2A))
Individual ID |
00436389 |
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.9862850G>A |
DNA change (hg38) |
g.9768993G>A |
Published as |
- |
ISCN |
- |
DB-ID |
GRIN2A_000224 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Pietro Palumbo |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Pietro Palumbo |
Date created |
2023-09-06 14:43:26 +02:00 (CEST) |
Date last edited |
2023-09-07 16:27:06 +02:00 (CEST) |

Variant on transcripts
Screenings
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