Variant #0000314578 (NC_000003.11:g.14170981C>T, NM_024334.2:c.82C>T (TMEM43))
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14170981C>T |
DNA change (hg38) |
g.14129481C>T |
Published as |
TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W) |
ISCN |
- |
DB-ID |
TMEM43_000004 See all 7 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) |
0.00253 View details |
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 |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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