Variant #0000624940 (NC_000007.13:g.150674943C>A, NM_000238.3:c.59G>T (KCNH2))

Individual ID 00269932
Chromosome 7
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.150674943C>A
DNA change (hg38) g.150977855C>A
Published as -
ISCN -
DB-ID KCNH2_000788 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 Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2019-12-10 12:34:02 +01:00 (CET)
Date last edited 2020-03-28 07:10:13 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNH2 NM_000238.3 ?/. - c.59G>T r.(?) p.(Arg20Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271085 DNA SEQ-NG-S - - - 1 Andreas Laner


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