Variant #0000714878 (NC_000012.11:g.5153411A>T, NM_002234.3:c.98A>T (KCNA5))
Individual ID |
00329093 |
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.5153411A>T |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
KCNA5_000031 See all 2 reported entries |
Variant remarks |
ACMG: PM2, PP3: class 3 |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00025 View details |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2021-02-03 16:26:58 +01:00 (CET) |
Date last edited |
2021-02-03 16:32:09 +01:00 (CET) |

Variant on transcripts
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