Variant #0000404272 (NC_000005.9:g.36962216G>A, NIPBL(NM_133433.3):c.459-9G>A)

Individual ID 00179858
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.36962216G>A
DNA change (hg38) g.36962114G>A
Published as -
ISCN -
DB-ID NIPBL_000256
Variant remarks mosaicism; activation of cryptic acceptor splice site (bioinformatic prediction)
Reference Redeker (unpublished)
ClinVar ID -
dbSNP ID -
Origin De novo
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +?/. 5i c.459-9G>A r.spl? p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180761 DNA SEQ - - NIPBL 1 Bert Redeker