Variant #0000805505 (NC_000012.11:g.108962636C>T, ISCU(NM_014301.3):c.373C>T)
Chromosome |
12 |
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.108962636C>T |
DNA change (hg38) |
- |
Published as |
ISCU(NM_014301.4):c.373C>T (p.L125=) |
ISCN |
- |
DB-ID |
ISCU_000006 |
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) |
0.00028 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2021-09-17 14:40:49 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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