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
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