Variant #0000078343 (NC_000007.13:g.150671891G>T, NM_000238.3:c.215C>A (KCNH2))

Individual ID 00049539
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.150671891G>T
DNA change (hg38) g.150974803G>T
Published as -
ISCN -
DB-ID KCNH2_000773 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Hideki Itoh
Database submission license No license selected
Created by Hideki Itoh
Date created 2015-08-21 00:07:34 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNH2 NM_000238.3 ?/. 2 c.215C>A r.(?) p.(Pro72Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049456 DNA SEQ leukocyte - KCNH2 1 Hideki Itoh


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