Variant #0000653332 (NC_000007.13:g.150655254_150655255insCTTTT, NM_000238.3:c.808_809insAAAAG (KCNH2))
Individual ID |
00295475 |
Chromosome |
7 |
Allele |
Parent #1 |
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.150655254_150655255insCTTTT |
DNA change (hg38) |
g.150958166_150958167insCTTTT |
Published as |
- |
ISCN |
- |
DB-ID |
KCNH2_001320 |
Variant remarks |
8 heterozygous, no homozygous; Clinindb (India) |
Reference |
PubMed: Narang 2020, Journal: Narang 2020 |
ClinVar ID |
- |
dbSNP ID |
rs794728426 |
Origin |
Germline |
Segregation |
- |
Frequency |
8/2738 individuals |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Mohammed Faruq |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-03-11 19:46:11 +01:00 (CET) |
Date last edited |
2021-04-21 13:09:10 +02:00 (CEST) |

Variant on transcripts
Screenings
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