Variant #0000977841 (NC_000007.13:g.73935594C>T, NM_016328.2:c.973C>T (GTF2IRD1))
| Chromosome |
7 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
VUS |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.73935594C>T |
| DNA change (hg38) |
- |
| Published as |
GTF2IRD1(NM_005685.4):c.973C>T (p.(Arg325Cys)) |
| ISCN |
- |
| DB-ID |
GTF2IRD1_000005 |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
VKGL-NL_Leiden |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Leiden |
| Date created |
2024-04-19 20:27:30 +02:00 (CEST) |
| Date last edited |
N/A |

Variant on transcripts
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