Variant #0000610935 (NC_000007.13:g.150655174G>A, NM_000238.3:c.889C>T (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.150655174G>A
DNA change (hg38) g.150958086G>A
Published as KCNH2(NM_000238.3):c.889C>T (p.P297S), KCNH2(NM_000238.4):c.889C>T (p.P297S)
ISCN -
DB-ID KCNH2_000727 See all 3 reported entries
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2025-07-08 13:22:38 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNH2 NM_000238.3 ?/. - c.889C>T r.(?) p.(Pro297Ser)
KCNH2 NM_172057.2 ?/. - c.-2583C>T r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.