Variant #0000404231 (NC_000005.9:g.36958307G>C, NIPBL(NM_133433.3):c.332G>C)

Individual ID 00179818
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.36958307G>C
DNA change (hg38) g.36958205G>C
Published as -
ISCN -
DB-ID NIPBL_000230 See all 2 reported entries
Variant remarks -
Reference ESHG2010 Braunholz P11.015
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 Jorge Oliveira
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +/. 4 c.332G>C r.(?) p.(Ser111Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180721 DNA SEQ - - NIPBL 1 Johan den Dunnen