Variant #0000392006 (NC_000014.8:g.(99600000_99670004)_(99987146_100000000)del, NM_138576.2:c.0 (BCL11B))

Individual ID 00170832
Chromosome 14
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.(99600000_99670004)_(99987146_100000000)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID BCL11B_000005 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yanjie Fan
Database submission license No license selected
Created by Yanjie Fan
Date created 2018-07-24 02:36:51 +02:00 (CEST)
Date last edited 2018-10-11 16:05:15 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCNK NM_001099402.1 +/. - c.0 r.0 p.0
CCDC85C NM_001144995.1 +/. - c.(?_975+1324)_(*1_?)del r.? p.?
SETD3 NM_032233.2 +/. - c.0 r.0 p.0
BCL11B NM_138576.2 +/. - c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000171713 DNA arrayCNV - - - 1 Yanjie Fan


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