Variant #0000165276 (NC_000005.9:g.36971139G>C, NIPBL(NM_133433.3):c.771+1G>C)

Individual ID 00102083
Chromosome 5
Allele Unknown
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.36971139G>C
DNA change (hg38) g.36971037G>C
Published as -
ISCN -
DB-ID NIPBL_000302
Variant remarks -
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 Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +/. 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del) 0.000



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000102534 DNA SEQ-NG-I blood - NIPBL 1 Wenjuan Qiu