Variant #0000787334 (NC_000005.9:g.36958231G>A, NIPBL(NM_133433.3):c.256G>A)

Individual ID 00374789
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.36958231G>A
DNA change (hg38) g.36958129G>A
Published as -
ISCN -
DB-ID NIPBL_000244 See all 2 reported entries
Variant remarks -
Reference PubMed: Ganapathy 2019
ClinVar ID -
dbSNP ID rs1188531884
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
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 ?/. 4 c.256G>A r.(?) p.(Asp86Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000375983 DNA SEQ-NG - TruSight One panel NIPBL 1 Johan den Dunnen