Variant #0000171989 (NC_000012.11:g.108959155G>T, ISCU(NM_014301.3):c.212G>T)
Individual ID |
00105916 |
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.108959155G>T |
DNA change (hg38) |
g.108565379G>T |
Published as |
NM_213595.2:c.287G>T |
ISCN |
- |
DB-ID |
ISCU_000003 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Daniele Ghezzi |
Database submission license |
Creative Commons Attribution-NonCommercial 4.0 International |
Created by |
Daniele Ghezzi |
Date created |
2017-06-26 16:55:03 +02:00 (CEST) |
Date last edited |
2017-06-30 10:21:09 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|