Variant #0000791266 (NC_000006.11:g.149700561C>T, NM_015093.4:c.1510C>T (TAB2))
Individual ID |
00377280 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.149700561C>T |
DNA change (hg38) |
g.149379425C>T |
Published as |
g.14969973C>T |
ISCN |
- |
DB-ID |
TAB2_000036 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Cecilia Giunta |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Cecilia Giunta |
Date created |
2021-07-16 16:45:08 +02:00 (CEST) |
Date last edited |
2021-07-21 09:29:22 +02:00 (CEST) |

Variant on transcripts
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