Variant #0000621852 (NC_000007.13:g.150655492_150655500dup, NM_000238.3:c.567_575dup (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.150655492_150655500dup
DNA change (hg38) g.150958404_150958412dup
Published as KCNH2(NM_000238.3):c.567_575dupCGCCCCGGG (p.P191_A193dup)
ISCN -
DB-ID KCNH2_001295
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_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2019-12-06 12:43:26 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNH2 NM_000238.3 ?/. - c.567_575dup r.(?) p.(Pro191_Ala193dup)
KCNH2 NM_172057.2 ?/. - c.-2905_-2897dup r.(?) p.(=)


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