Variant #0000404883 (NC_000005.9:g.36962301G>A, NIPBL(NM_133433.3):c.535G>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
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 yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction
Reference ESHG2010 Braunholz P11.015
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00396 View details
Owner Jorge Oliveira
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.535G>A r.(?) p.Ala179Thr -