Variant #0000404064 (NC_000005.9:g.36877044_36877045delinsA, NIPBL(NM_133433.3):c.-316_-315delinsA)

Individual ID 00179651
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.36877044_36877045delinsA
DNA change (hg38) g.36876942_36876943delinsA
Published as -321_-320delCCinsA
ISCN -
DB-ID NIPBL_000093 See all 2 reported entries
Variant remarks mRNA expression reduced (14%); father affected; de novo, in father
Reference PubMed: Borck 2004; PubMed: Borck 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Cristina Dias
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jorge Oliveira
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 +/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000180554 RNA;DNA PCR;RT-PCR;SEQ - - NIPBL 1 Cristina Dias