Variant #0000822510 (NC_000005.9:g.36958247_36958255del, NIPBL(NM_133433.3):c.272_280del)

Individual ID 00391016
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.36958247_36958255del
DNA change (hg38) g.36958145_36958153del
Published as -
ISCN -
DB-ID NIPBL_000411
Variant remarks ACMG: PS2, PM4, PM2_SUP; confirmed de novo in trio-exome analysis
Reference -
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +?/. - c.272_280del r.(?) p.(Asp91_Pro93del) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000392257 DNA SEQ-NG-I - - NIPBL 1 Andreas Laner