Variant #0000040351 (NC_000012.11:g.5021656C>T, NM_000217.2:c.1112C>T (KCNA1))
Individual ID |
00019890 |
Chromosome |
12 |
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.5021656C>T |
DNA change (hg38) |
g.4912490C>T |
Published as |
- |
ISCN |
- |
DB-ID |
KCNA1_000001 |
Variant remarks |
- |
Reference |
PubMed: Gilissen 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marianne Vos (LOVD-team) |
Database submission license |
No license selected |
Created by |
Marianne Vos (LOVD-team) |
Date created |
2014-09-15 10:49:12 +02:00 (CEST) |
Date last edited |
2014-11-08 09:49:37 +01:00 (CET) |

Variant on transcripts
Screenings
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