Variant #0000404010 (NC_000005.9:g.36971109_36971110del, NIPBL(NM_133433.3):c.742_743del)

Individual ID 00179597
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.36971109_36971110del
DNA change (hg38) g.36971007_36971008del
Published as 742delCT
ISCN -
DB-ID NIPBL_000050
Variant remarks -
Reference PubMed: Gillis 2004
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cristina Dias
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +/. 7 c.742_743del r.(?) p.(Leu248Thrfs*8) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180500 DNA CSGE;SEQ - - NIPBL 1 Cristina Dias