Variant #0001020731 (NC_000003.11:g.32758731dup, NC_000003.11(NM_015442.2):c.744+2dup (CNOT10))

Individual ID 00459539
Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32758731dup
DNA change (hg38) g.32717239dup
Published as 744+2_744+3insT
ISCN -
DB-ID CNOT10_000004
Variant remarks -
Reference PubMed: SzczaƂuba 2018
ClinVar ID -
dbSNP ID -
Origin Germline
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 2025-01-13 14:39:34 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNOT10 NM_015442.2 +?/. - c.744+2dup r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000461165 DNA SEQ;SEQ-NG - WES - 9 Johan den Dunnen


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