Variant #0000404265 (NC_000005.9:g.36955727C>T, NIPBL(NM_133433.3):c.218C>T)

Individual ID 00179851
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.36955727C>T
DNA change (hg38) g.36955625C>T
Published as -
ISCN -
DB-ID NIPBL_000250
Variant remarks not pathogenic, inherited from unaffected mother; not in 100 control chromosomes
Reference PubMed: Park, 2010
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cristina Dias
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 -?/. 3 c.218C>T r.(?) p.(Ser72Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180754 DNA SEQ - - NIPBL 1 Cristina Dias