Variant #0000328613 (NC_000020.10:g.62076169G>A, NM_172107.2:c.533C>T (KCNQ2))
Chromosome |
20 |
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.62076169G>A |
DNA change (hg38) |
g.63444816G>A |
Published as |
KCNQ2(NM_172107.2):c.533C>T (p.(Ala178Val)) |
ISCN |
- |
DB-ID |
KCNQ2_000140 |
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) |
Retrieve |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
|