Variant #0000543554 (NC_000011.9:g.2411701C>G, CD81(NM_004356.3):c.126C>G)
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.2411701C>G |
DNA change (hg38) |
g.2390471C>G |
Published as |
CD81(NM_004356.3):c.126C>G (p.T42=) |
ISCN |
- |
DB-ID |
CD81_000006 See all 2 reported entries |
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) |
0.00016 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |

Variant on transcripts
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