Variant #0000609700 (NC_000005.9:g.36958269C>T, NIPBL(NM_133433.3):c.294C>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.36958269C>T
DNA change (hg38) g.36958167C>T
Published as NIPBL(NM_015384.4):c.294C>T (p.A98=)
ISCN -
DB-ID NIPBL_000356
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00035 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
NIPBL NM_133433.3 -?/. - c.294C>T r.(?) p.(Ala98=) -