Variant #0000434891 (NC_000011.9:g.61165357T>G, NM_001173990.2:c.341T>G (TMEM216))
Individual ID |
00000099 |
Chromosome |
11 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.61165357T>G |
DNA change (hg38) |
g.61397885T>G |
Published as |
T341G, L114R |
ISCN |
- |
DB-ID |
TMEM216_000005 See all 7 reported entries |
Variant remarks |
Mutation leads to unstable protein product. |
Reference |
PubMed: Valente 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
0/766 CON |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne Polvi |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Julia Lopez |
Date created |
2018-11-08 18:32:09 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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