Variant #0000621852 (NC_000007.13:g.150655492_150655500dup, NM_000238.3:c.567_575dup (KCNH2))
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.150655492_150655500dup |
DNA change (hg38) |
g.150958404_150958412dup |
Published as |
KCNH2(NM_000238.3):c.567_575dupCGCCCCGGG (p.P191_A193dup) |
ISCN |
- |
DB-ID |
KCNH2_001295 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2019-12-06 12:43:26 +01:00 (CET) |
Date last edited |
2020-03-23 16:13:27 +01:00 (CET) |

Variant on transcripts
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