Variant #0000787101 (NC_000005.9:g.(?_36958206)_(36958333_?)del, NIPBL(NM_133433.3):c.(230+1_231-1)_(358+1_359-1)del)

Individual ID 00374556
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_36958206)_(36958333_?)del
DNA change (hg38) -
Published as chr5:36958206-?_36958333+?del
ISCN -
DB-ID NIPBL_000399
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +?/. 3i_4i c.(230+1_231-1)_(358+1_359-1)del r.? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375750 DNA SEQ-NG - TruSight One panel NIPBL 1 Johan den Dunnen