Variant #0001035640 (NC_000006.11:g.24302272C>T, NM_181337.3:c.-55596C>T (KAAG1))
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.24302272C>T |
DNA change (hg38) |
- |
Published as |
DCDC2(NM_016356.5):c.349G>A (p.(Val117Ile)) |
ISCN |
- |
DB-ID |
KAAG1_000021 |
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) |
0.00012 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2025-05-05 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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