Variant #0000736276 (NC_000001.10:g.45446809C>A, NM_020365.4:c.32G>T (EIF2B3))
Individual ID |
00335517 |
Chromosome |
1 |
Allele |
Unknown |
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.45446809C>A |
DNA change (hg38) |
g.44981137C>A |
Published as |
- |
ISCN |
- |
DB-ID |
EIF2B3_000014 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Muhammad Umair |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Muhammad Umair |
Date created |
2021-03-07 07:40:39 +01:00 (CET) |
Date last edited |
2023-12-01 13:24:45 +01:00 (CET) |

Variant on transcripts
Screenings
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