Variant #0000667696 (NC_000020.10:g.62076115G>A, NM_172107.2:c.587C>T (KCNQ2))
Individual ID |
00303143 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62076115G>A |
DNA change (hg38) |
g.63444762G>A |
Published as |
NM_004518.4:c.587G>A (Ala196Val) |
ISCN |
- |
DB-ID |
KCNQ2_000038 See all 4 reported entries |
Variant remarks |
- |
Reference |
PubMed: Carvill 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-06-07 12:54:10 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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