Variant #0001025429 (NC_000007.13:g.73933915C>T, NM_016328.2:c.782C>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.73933915C>T |
DNA change (hg38) |
- |
Published as |
GTF2IRD1(NM_016328.3):c.782C>T (p.A261V) |
ISCN |
- |
DB-ID |
GTF2IRD1_000009 |
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) |
6.0E-5 View details |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2025-02-07 18:57:27 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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