Variant #0000084785 (NC_000020.10:g.62076101G>A, NM_172107.2:c.601C>T (KCNQ2))
Individual ID |
00054824 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.62076101G>A |
DNA change (hg38) |
g.63444748G>A |
Published as |
- |
ISCN |
- |
DB-ID |
KCNQ2_000056 See all 2 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
NeuroMeGen |
Database submission license |
No license selected |
Created by |
NeuroMeGen |
Date created |
2015-11-26 05:20:06 +01:00 (CET) |
Date last edited |
2015-11-26 05:20:06 +01:00 (CET) |

Variant on transcripts
Screenings
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