Variant #0000404232 (NC_000005.9:g.36962301G>A, NIPBL(NM_133433.3):c.535G>A)

Individual ID 00179819
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.36962301G>A
DNA change (hg38) g.36962199G>A
Published as -
ISCN -
DB-ID NIPBL_000231 See all 4 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) 0.00396 View details
Owner Johan den Dunnen
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 +/. 6 c.535G>A r.(?) p.(Ala179Thr) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180722 DNA SEQ - - NIPBL 1 Johan den Dunnen