Variant #0000651702 (NC_000005.9:g.36962364C>T, NIPBL(NM_133433.3):c.598C>T)

Individual ID 00293845
Chromosome 5
Allele Parent #1
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.36962364C>T
DNA change (hg38) g.36962262C>T
Published as -
ISCN -
DB-ID NIPBL_000368
Variant remarks 5 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs587783988
Origin Germline
Segregation -
Frequency 5/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +/. - c.598C>T r.(?) p.(Gln200*) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295013 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq