Variant #0000651701 (NC_000005.9:g.36958338G>C, NIPBL(NM_133433.3):c.358+5G>C)

Individual ID 00293844
Chromosome 5
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.36958338G>C
DNA change (hg38) g.36958236G>C
Published as -
ISCN -
DB-ID NIPBL_000367
Variant remarks 1 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs587783928
Origin Germline
Segregation -
Frequency 1/2790 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +?/. - c.358+5G>C r.spl? p.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295012 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq