Variant #0000531270 (NC_000007.13:g.150654468G>A, NM_000238.3:c.1039C>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.150654468G>A
DNA change (hg38) g.150957380G>A
Published as KCNH2(NM_000238.3):c.1039C>T (p.P347S), KCNH2(NM_000238.4):c.1039C>T (p.P347S)
ISCN -
DB-ID KCNH2_000145 See all 12 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) 0.00108 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 2019-07-18 18:22:55 +02:00 (CEST)
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.1039C>T r.(?) p.(Pro347Ser)
KCNH2 NM_172057.2 -?/. - c.-1877C>T r.(?) p.(=)


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