Variant #0000252467 (NC_000012.11:g.6442921A>G, NM_001065.3:c.304T>C (TNFRSF1A))
Chromosome |
12 |
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.6442921A>G |
DNA change (hg38) |
g.6333755A>G |
Published as |
TNFRSF1A(NM_001065.3):c.304T>C (p.C102R) |
ISCN |
- |
DB-ID |
TNFRSF1A_000125 |
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_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
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