Variant #0000404887 (NC_000005.9:g.36955595C>A, NIPBL(NM_133433.3):c.86C>A)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.36955595C>A
DNA change (hg38) g.36955493C>A
Published as -
ISCN -
DB-ID NIPBL_000123 See all 3 reported entries
Variant remarks yeast two-hybrid analysis: abolishes 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) Variant not found in online data sets
Owner Jorge Oliveira
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 +/. 3 c.86C>A r.(?) p.Pro29Gln -