Variant #0000610943 (NC_000007.13:g.150671806C>A, NM_000238.3:c.300G>T (KCNH2))

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.150671806C>A
DNA change (hg38) g.150974718C>A
Published as KCNH2(NM_000238.4):c.300G>T (p.R100=)
ISCN -
DB-ID KCNH2_001266 See all 2 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) 0.00024 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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.300G>T r.(?) p.(Arg100=)
KCNH2 NM_172057.2 -?/. - c.-19215G>T r.(?) p.(=)


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