Variant #0000653227 (NC_000007.13:g.150672024T>C, NM_000238.3:c.82A>G (KCNH2))

Individual ID 00295370
Chromosome 7
Allele Parent #1
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.150672024T>C
DNA change (hg38) g.150974936T>C
Published as -
ISCN -
DB-ID KCNH2_001156 See all 2 reported entries
Variant remarks no interpretation available; 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs794728475
Origin Germline
Segregation -
Frequency 1/2794 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2022-10-13 02:17:55 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNH2 NM_000238.3 ?/. - c.82A>G r.(?) p.(Lys28Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000296538 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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