Variant #0000794111 (NC_000005.9:g.36976246C>T, NIPBL(NM_133433.3):c.1237C>T)

Individual ID 00379679
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.36976246C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID NIPBL_000407
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Jinu Han
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jinu Han
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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.1237C>T r.(?) p.(Pro413Ser) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000380880 DNA SEQ-NG-I - - - 1 Jinu Han