Variant #0000567289 (NC_000019.9:g.39401568C>A, NM_017827.3:c.*4678G>T (SARS2))

Chromosome 19
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.39401568C>A
DNA change (hg38) g.38910928C>A
Published as CCER2(NM_001243212.1):c.346G>T (p.E116*)
ISCN -
DB-ID NFKBIB_000001
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SARS2 NM_001145901.1 ?/. - c.*4678G>T r.(=) p.(=)
NFKBIB NM_002503.4 ?/. - c.*2096C>A r.(=) p.(=)
SIRT2 NM_012237.3 ?/. - c.-11407G>T r.(?) p.(=)
SARS2 NM_017827.3 ?/. - c.*4678G>T r.(=) p.(=)


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