Variant #0000670335 (NC_000016.9:g.58615276A>T, NM_016284.4:c.1188T>A (CNOT1))

Individual ID 00305524
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.58615276A>T
DNA change (hg38) g.58581372A>T
Published as -
ISCN -
DB-ID CNOT1_000030
Variant remarks -
Reference PubMed: Vissers 2020
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-28 10:52:31 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNOT1 NM_016284.4 +/. - c.1188T>A r.(?) p.(Tyr396*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000306653 DNA SEQ;SEQ-NG - WES CNOT1 2 Johan den Dunnen


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