Variant #0000188369 (NC_000020.10:g.62076612G>A, NM_172107.2:c.493C>T (KCNQ2))
Individual ID |
00117056 |
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.62076612G>A |
DNA change (hg38) |
g.63445259G>A |
Published as |
- |
ISCN |
- |
DB-ID |
KCNQ2_000069 |
Variant remarks |
- |
Reference |
PubMed: Bobbili 2018, Journal: Bobbili 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
1/567 controls |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Dheeraj Bobbili |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-08-03 15:16:01 +02:00 (CEST) |
Date last edited |
2022-10-12 13:05:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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