Variant #0000404165 (NC_000005.9:g.36962279dup, NIPBL(NM_133433.3):c.513dup)

Individual ID 00179752
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.36962279dup
DNA change (hg38) g.36962177dup
Published as 513dupT
ISCN -
DB-ID NIPBL_000162 See all 2 reported entries
Variant remarks -
Reference Redeker (unpublished)
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 Bert Redeker
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 +/. 6 c.513dup r.(?) p.(Ser172*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180655 DNA DHPLC - - NIPBL 1 Bert Redeker